Pathological Conditions, Signs and Symptoms

• Morphological and Microscopic Findings
• Adenocarcinoma in Situ
• Atypical Squamous Cells of the Cervix
• Squamous Intraepithelial Lesions of the Cervix
• Pathological Conditions, Anatomical
• Accessory Atrioventricular Bundle
• Airway Remodeling
• Agenesis of Corpus Callosum
• Absent corpus callosum cataract immunodeficiency
• Acrocallosal Syndrome
• Acrocallosal syndrome, Schinzel type
• Aicardi Syndrome
• X-linked infantile spasm syndrome
• Ben Ari Shuper Mimouni syndrome
• Calloso-genital dysplasia
• CAMFAK syndrome
• Chudley-Mccullough syndrome
• Combined Oxidative Phosphorylation Deficiency 2
• Corpus callosum agenesis neuronopathy
• Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence
• Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia
• Corpus Callosum, Partial Agenesis of, X-Linked
• Curatolo Cilio Pessagno syndrome
• Donnai-Barrow syndrome
• Duker Weiss Siber syndrome
• Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Agenesis of the Corpus Callosum
• Faye-Petersen Ward Carey syndrome
• Cyclopia
• Dysgnathia complex
• Genoa syndrome
• Holoprosencephaly 10
• Holoprosencephaly 2
• Holoprosencephaly 3
• Holoprosencephaly 4
• Holoprosencephaly 5
• Holoprosencephaly 6
• Holoprosencephaly 7
• Holoprosencephaly 8
• Holoprosencephaly 9
• Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
• Holoprosencephaly, recurrent infections, and monocytosis
• Holoprosencephaly with Fetal Akinesia-Hypokinesia Sequence
• Lambotte syndrome
• Microgastria limb reduction defect
• Nonsyndromic Holoprosencephaly
• Pseudotrisomy 13 syndrome
• Steinfeld Syndrome
• Kozlowski Ouvrier syndrome
• Lissencephaly and agenesis of corpus callosum
• Median cleft lip, corpus callosum, lipoma, and skin polyps
• Microcephaly, corpus callosum dysgenesis and cleft lip-palate
• Nakamura Osame syndrome
• Opitz-Kaveggia syndrome
• Osteochondrodysplasia, Rhizomelic, with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension
• Partial agenesis of corpus callosum
• Proud Syndrome
• Recurrent spontaneous hypothermia with hypoplasia of the corpus callosum
• Saal Bulas syndrome
• Sakoda Complex
• Shapiro syndrome
• Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, And Atypical Clefting
• Stargardt Macular Degeneration Absent or Hypoplastic Corpus Callosum Mental Retardation and Dysmorphic Features
• Temtamy syndrome
• Thrombocytopenia Robin sequence
• Androgenetic alopecia
• Alopecia, Androgenetic, 2
• Alopecia, Androgenetic, 3
• Alopecia areata
• Alopecia Areata 1
• Alopecia Areata 2
• Diffuse alopecia
• Alopecia congenita keratosis palmoplantaris
• Alopecia contractures dwarfism mental retardation
• Alopecia epilepsy oligophrenia syndrome of Moynahan
• Alopecia, epilepsy, pyorrhea, mental subnormality
• Alopecia, Familial Focal
• Alopecia hypogonadism extrapyramidal disorder
• Alopecia-Mental Retardation Syndrome 1
• Alopecia-Mental Retardation Syndrome 2
• ALOPECIA-MENTAL RETARDATION SYNDROME 3
• Alopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism
• Alopecia, Neurologic Defects, and Endocrinopathy Syndrome
• Alopecia universalis
• Alopecia Universalis Congenita, XY Gonadal Dysgenesis, and Laryngomalacia
• Alopecia universalis onychodystrophy vitiligo
• Atrichia with Papular Lesions
• Bullous Dystrophy, Hereditary Macular Type
• Cataract, alopecia, sclerodactyly
• Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
• Congenital alopecia X-linked
• Dermatopathia pigmentosa reticularis
• Ectodermal dysplasia alopecia preaxial polydactyly
• Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance and Preaxial Polydactyly of Feet
• Follicular hamartoma alopecia cystic fibrosis
• FRONTONASAL DYSPLASIA 2
• Garret Tripp syndrome
• Glomerulonephritis sparse hair telangiectases
• Gomez Lopez Hernandez syndrome
• Growth retardation, Alopecia, Pseudoanodontia and Optic atrophy
• Hypergonadotropic Hypogonadism And Partial Alopecia
• Ichthyosis follicularis atrichia photophobia syndrome
• Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
• Jagell Holmgren Hofer syndrome
• Johnson neuroectodermal syndrome
• Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
• Kuster Majewski Hammerstein syndrome
• Loose Anagen Hair Syndrome
• Noonan-Like Syndrome With Loose Anagen Hair
• NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR
• Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis
• Microcephaly sparse hair mental retardation seizures
• Moloney syndrome
• Mucinosis, Follicular
• PARC syndrome
• Patel Bixler syndrome
• Perniola Krajewska Carnevale syndrome
• Satoyoshi syndrome
• Scholte syndrome
• Slti Salem syndrome
• T-cell immunodeficiency, congenital alopecia and nail dystrophy
• Thumb deformity, alopecia, pigmentation anomaly
• Thumb Deformity And Alopecia
• Total Hypotrichosis, Mari type
• Urban Schosser Spohn syndrome
• Woolly hair, hypotrichosis, everted lower lip and outstanding ears
• Woodhouse Sakati syndrome
• Atrial Remodeling
• Atrophy
• MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY
• Muscular Atrophy
• Allan-Herndon-Dudley syndrome
• Arnold Stickler Bourne syndrome
• Facial Dysmorphism with Multiple Malformations
• Furukawa Takagi Nakao syndrome
• Lethal Congenital Contractural Syndrome 3
• MENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE
• Miyoshi Muscular Dystrophy 2
• Miyoshi Muscular Dystrophy 3
• Miyoshi myopathy
• Muscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes Mellitus
• Muscular Atrophy, Malignant Neurogenic
• Nathalie syndrome
• Primrose syndrome
• Sarcopenia
• Thakker Donnai syndrome
• Wieacker syndrome
• Blister
• Hypotrichosis And Recurrent Skin Vesicles
• Poikiloderma of Kindler
• Pulmonary Bullae Causing Pneumothorax
• Calculi
• Dental Calculus
• Gallstones
• Cholestasis with Gallstone, Ataxia, and Visual Disturbance
• GALLBLADDER DISEASE 1
• Salivary Calculi
• Salivary Duct Calculi
• Salivary Gland Calculi
• Testicular Microlithiasis
• Urinary Calculi
• Kidney stone
• Gorlin Bushkell Jensen syndrome
• NEPHROLITHIASIS, URIC ACID, SUSCEPTIBILITY TO
• Renal hypouricemia
• Ureteral Calculi
• Urinary Bladder Calculi
• Choristoma
• Choroidal Osteoma, Bilateral
• Dermoids of cornea
• Stricture
• Calabro syndrome
• Celiac Artery Stenosis from Compression by Median Arcuate Ligament of Diaphragm
• Infundibulopelvic dysgenesis
• Laryngotracheal Stenosis, Progressive, with Short Stature and Arthropathy
• Lumbar Stenosis, Familial
• Pseudoainhum
• Tracheal agenesis
• Tracheobronchial Stenosis, Congenital
• Urethral obstruction sequence
• Cysts
• Aplasia Cutis Congenita, Congenital Heart Defect, And Frontonasal Cysts
• Arachnoid Cysts
• Bobble-head doll syndrome
• Chudley-Mccullough syndrome
• PACHYGYRIA WITH MENTAL RETARDATION, SEIZURES, AND ARACHNOID CYSTS
• Spinal intradural arachnoid cysts
• Tibia, Absence or Hypoplasia of, with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies
• Tibia absent polydactyly arachnoid cyst
• Bone Cysts
• Bone Cysts, Aneurysmal
• Jaw Cysts
• Nonodontogenic Cysts
• Odontogenic Cysts
• Basal Cell Nevus Syndrome
• Aloi Tomasini Isaia syndrome
• Dentigerous Cyst
• Odontogenic Cyst, Calcifying
• Periodontal Cyst
• Radicular Cyst
• Polycystic bone disease
• Branchioma
• Breast Cyst
• Galactocele
• Bronchogenic Cyst
• Chalazion
• Choledochal Cyst
• Caroli Disease
• Caroli disease isolated
• Colloid Cysts
• Colloid cysts of third ventricle
• Cystic medial necrosis of aorta
• Dermoid Cyst
• 46,XX Gonadal dysgenesis epibulbar dermoid
• Aplasia Cutis Congenita with Epibulbar Dermoids
• Dermoid Cysts, Familial Frontonasal
• Ring dermoid of cornea
• Zadik Barak Levin syndrome
• Ectodermal dysplasia adrenal cyst
• Epidermal Cyst
• FLOTCH syndrome
• Follicular Atrophoderma, Perioral Pigmented, with Milia and Epidermoid Cysts
• Trichilemmal Cyst 1
• Esophageal Cyst
• Follicular Cyst
• Trichofolliculoma
• Ganglion Cysts
• Leukoencephalopathy, Cystic, Without Megalencephaly
• Lymphocele
• Campomelia Cumming type
• Mediastinal Cyst
• Megalencephalic leukoencephalopathy with subcortical cysts
• Mesenteric Cyst
• Microphthalmia associated with colobomatous cyst
• Mucocele
• Ovarian Cysts
• Fraser-Like Syndrome
• Neonatal ovarian cyst
• Polycystic ovary syndrome
• Fowler Christmas Chapple syndrome
• Polycystic Ovarian Disease due to 17-Ketosteroid Reductase Deficiency
• Pancreatic Cyst
• Pancreatic Pseudocyst
• Renal hepatic pancreatic dysplasia Dandy Walker cyst
• Parovarian Cyst
• Pilonidal Sinus
• Polycystic liver disease
• Ranula
• Sener syndrome
• Spermatocele
• Synovial Cyst
• Popliteal Cyst
• Tarlov Cysts
• Thyroglossal Cyst
• Thyroglossal tract cyst
• Urachal Cyst
• Benign non-infected urachal cyst
• Van der Woude syndrome
• VAN DER WOUDE SYNDROME 1, MODIFIER OF
• Dilatation, Pathologic
• Diverticulum
• Bladder Diverticulum
• Diverticulosis, Small Intestinal
• Diverticulum, Colon
• Diverticulum, Esophageal
• Zenker Diverticulum
• Diverticulum, Stomach
• Meckel Diverticulum
• Facial Asymmetry
• Facial Hemihypertrophy
• Fronto-facio-nasal dysplasia
• Hemifacial Hyperplasia With Strabismus
• Hemifacial myohyperplasia
• Mehes syndrome
• Oculodentoosseous dysplasia recessive
• Opitz Reynolds Fitzgerald syndrome
• Fistula
• Cutaneous Fistula
• Digestive System Fistula
• Biliary Fistula
• Esophageal Fistula
• Tracheoesophageal Fistula
• Esophageal atresia with or without tracheoesophageal fistula
• Martinez-Frias Syndrome
• Oculodigitoesophagoduodenal syndrome
• Vater Association With Hydrocephalus
• Gastric Fistula
• Intestinal Fistula
• Rectal Fistula
• Rectovaginal Fistula
• Pancreatic Fistula
• Lachiewicz Sibley syndrome
• Oral Fistula
• Dental Fistula
• Oroantral Fistula
• Salivary Gland Fistula
• Respiratory Tract Fistula
• Bronchial Fistula
• Tracheoesophageal Fistula
• Esophageal atresia with or without tracheoesophageal fistula
• Martinez-Frias Syndrome
• Oculodigitoesophagoduodenal syndrome
• Vater Association With Hydrocephalus
• Urinary Fistula
• Urinary Bladder Fistula
• Vesicovaginal Fistula
• Vaginal Fistula
• Rectovaginal Fistula
• Vesicovaginal Fistula
• Vascular Fistula
• Arterio-Arterial Fistula
• Aorta-pulmonary artery fistula
• Bland White Garland Syndrome
• Arteriovenous Fistula
• Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas
• Carotid-Cavernous Sinus Fistula
• Pulmonary Arteriovenous Fistulas
• Wyburn Mason's syndrome
• Zuska's Disease
• Hernia
• Acromegaloid features, overgrowth, cleft palate, and hernia
• Encephalocele
• Cerebellar Vermis Aplasia with Associated Features suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome
• Cerebrorenodigital Syndrome with Limb Malformations and Triradiate Acetabula
• Dandy-Walker Malformation With Occipital Cephalocele, Autosomal Dominant
• DK Phocomelia Syndrome
• Fronto-facio-nasal dysplasia
• Knobloch syndrome
• Knobloch Syndrome Type II
• Knobloch Syndrome Type III
• Laryngeal Atresia, Encephalocele, and Limb Deformities
• Meckel-Like Cerebrorenodigital Syndrome
• Meckel syndrome type 1
• Meckel syndrome type 2
• Meckel syndrome type 3
• Meckel Syndrome, Type 4
• Meckel Syndrome, Type 5
• Meckel Syndrome, Type 6
• Parietal Foramina
• Parietal Foramina 1
• Parietal Foramina 2
• Parietal Foramina 3
• Parietal Foramina With Cleidocranial Dysplasia
• Podder-Tolmie syndrome
• Sakoda Complex
• Zechi-Ceide Syndrome
• Hernia, Abdominal
• Diverticulosis of Bowel, Hernia, and Retinal Detachment
• Gastroschisis
• Paraomphalocele
• Hernia, Femoral
• Hernia, Inguinal
• Arthrogryposis multiplex with deafness, inguinal hernias, and early death
• Hernia, Double Inguinal
• Lambert syndrome
• Microspherophakia with hernia
• Hernia, Ventral
• Hernia, Umbilical
• AXENFELD-RIEGER SYNDROME, TYPE 1
• Omphalocele cleft palate syndrome lethal
• Omphalocele, Diaphragmatic Hernia, And Radial Ray Defects
• Omphalocele exstrophy imperforate anus
• Pseudodiastrophic dysplasia
• Shprintzen omphalocele syndrome
• Hernia, Diaphragmatic
• Diaphragmatic Hernia 1
• Diaphragmatic Hernia 2
• Diaphragmatic Hernia 3
• Diaphragm, Complete Agenesis Of
• Fryns syndrome
• Hernia, Diaphragmatic, Traumatic
• Hernia, Hiatal
• Galloway Mowat syndrome
• Gastric Volvulus, Intrathoracic
• Sucrosuria, Hiatus Hernia and Mental Retardation
• Hernias, Diaphragmatic, Congenital
• Donnai-Barrow syndrome
• Epidermolysis Bullosa With Diaphragmatic Hernia
• Hernia, Anterior Diaphragmatic
• Kennerknecht Sorgo Oberhoffer syndrome
• Nasopharyngeal teratoma with Dandy Walker diaphragmatic hernia
• Omphalocele, Diaphragmatic Hernia, And Radial Ray Defects
• Saal Bulas syndrome
• Hernia, Obturator
• Incisional Hernia
• Intervertebral Disc Displacement
• Intervertebral disc disease
• Spastic paraplegia 25, autosomal recessive
• Megarbane syndrome
• Meningocele
• Cerebellar Vermis Aplasia with Associated Features suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome
• Lateral meningocele syndrome
• Sacral Agenesis Syndrome
• Sacral defect and anterior sacral meningocele
• Sakoda Complex
• Rectocele
• Hypertrophy
• Cardiac hypertrophy
• Cantu syndrome
• Dilated cardiomyopathy
• 3-Methylglutaconic Aciduria, Type V
• Cardiomyopathy, Dilated, 1z
• Cardiomyopathy, Dilated, 2a
• Cardiomyopathy, Dilated, 1CC
• Cardiomyopathy, Dilated, 1AA
• Cardiomyopathy, Dilated, 1BB
• Cardiomyopathy, Dilated, 1C
• Cardiomyopathy, Dilated, 1D
• Cardiomyopathy, Dilated, 1DD
• Cardiomyopathy, Dilated, 1E
• Cardiomyopathy, Dilated, 1EE
• Cardiomyopathy, Dilated, 1FF
• Cardiomyopathy, Dilated, 1g
• Cardiomyopathy, Dilated, 1i
• Cardiomyopathy, Dilated, 1J
• Cardiomyopathy, Dilated, 1K
• Cardiomyopathy, Dilated, 1l
• Cardiomyopathy, Dilated, 1M
• Cardiomyopathy, Dilated, 1N
• Cardiomyopathy, Dilated, 1o
• Cardiomyopathy, Dilated, 1p
• Cardiomyopathy, Dilated, 1q
• Cardiomyopathy, Dilated, 1s
• Cardiomyopathy, Dilated, 1t
• Cardiomyopathy, Dilated, 1u
• Cardiomyopathy, Dilated, 1V
• Cardiomyopathy, Dilated, 1w
• Cardiomyopathy, Dilated, 1x
• Cardiomyopathy, Dilated, 1y
• Cardiomyopathy, Dilated, 3A
• Cardiomyopathy, Dilated, with Left Ventricular Noncompaction
• Cardiomyopathy, Right Ventricular Dilated
• Dmd-Associated Dilated Cardiomyopathy
• Familial dilated cardiomyopathy
• Idiopathic dilation cardiomyopathy
• Krasnow Qazi syndrome
• Malouf syndrome
• Uhl anomaly
• Winship Viljoen Leary syndrome
• Ethanolaminosis
• GELEOPHYSIC DYSPLASIA 1
• Left ventricular hypertrophy
• Hypertrophy, Right Ventricular
• Gigantomastia
• Hepatomegaly
• Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly
• Dykes Markes Harper syndrome
• Refsum disease with increased pipecolic acidemia
• Tang Hsi Ryu syndrome
• Hypertrophia Musculorum Vera
• Kocher-Debre-Semelaigne syndrome
• Masticatory Muscles, Hypertrophy of
• Myostatin-related muscle hypertrophy
• Splenomegaly
• Banti's syndrome
• Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly
• Dykes Markes Harper syndrome
• Myeloid splenomegaly
• Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T-Helper Cells
• Tang Hsi Ryu syndrome
• Prolapse
• Pelvic Organ Prolapse
• Cystocele
• Rectal Prolapse
• Uterine Prolapse
• Visceral Prolapse
• Leg Length Inequality
• Leukoplakia
• Leukoplakia, Oral
• Leukoplakia, Hairy
• Nails, Malformed
• Alopecia universalis onychodystrophy vitiligo
• Ameloonychohypohidrotic syndrome
• Anonychia congenita
• Anonychia-Ectrodactyly
• Anonychia onychodystrophy
• Anonychia-onychodystrophy with brachydactyly type B and ectrodactyly
• Anonychia, Total, with Microcephaly
• Anonychia with Flexural Pigmentation
• Basan syndrome
• Brachymorphism-onychodysplasia-dysphalangism syndrome
• Cartwright Nelson Fryns syndrome
• Curly hair-acral keratoderma-caries syndrome
• Curly hair-ankyloblepharon-nail dysplasia syndrome
• Deafness, Congenital, and Onychodystrophy, Autosomal Dominant
• Deafness enamel hypoplasia nail defects
• Dermoodontodysplasia
• Digitorenocerebral Syndrome
• Double Nail for Fifth Toe
• Gorlin Bushkell Jensen syndrome
• Hereditary koilonychia
• Hypospadias-Mental Retardation Syndrome
• MAMMARY-DIGITAL-NAIL SYNDROME
• Otoonychoperoneal Syndrome
• NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9
• Oculotrichodysplasia
• Onycholysis, Partial, with Scleronychia
• Onychotrichodysplasia and neutropenia
• Pili torti onychodysplasia
• Pinheiro Freire-Maia Miranda syndrome
• Propping Zerres syndrome
• Santos Syndrome
• Schinzel-Giedion syndrome
• Steatocystoma multiplex with natal teeth
• Teebi Kaurah syndrome
• Temple-Baraitser Syndrome
• Toenail Dystrophy, Isolated
• Tonoki syndrome
• Twenty-Nail Dystrophy
• Ulna hypoplasia with mental retardation
• Ulnar Hypoplasia with Mental Retardation
• Witkop syndrome
• Yellow Nail Syndrome
• Lymphedema of the lower extremities, recurrent pneumonia, bronchiectasis, and yellowed nails
• Zori Stalker Williams syndrome
• Plaque, Amyloid
• Dementia-Parkinsonism With Non-Alzheimer Amyloid Plaques
• Plaque, Atherosclerotic
• Polyps
• Intestinal Polyps
• Colonic Polyps
• Nasal Polyps
• Asthma and Nasal Polyps
• Asthma, Nasal Polyps, And Aspirin Intolerance
• Median cleft lip, corpus callosum, lipoma, and skin polyps
• Polyposis Of Gastric Fundus Without Polyposis Coli
• Rupture, Spontaneous
• Bone Fragility with Contractures, Arterial Rupture, and Deafness
• Torsion Abnormality
• Bone Anteversion
• Coxa Vara
• Jacobs syndrome
• Patella aplasia, coxa vara, tarsal synostosis
• Bone Retroversion
• Coxa Valga
• Dystonia 13, Torsion
• Intestinal Volvulus
• McPherson Clemens syndrome
• Volvulus Of Midgut
• Tibial Torsion, Bilateral Medial
• Uterine Retroversion
• Vascular Remodeling
• Ventricular Remodeling
• Pathologic Processes
• Acantholysis
• Grover's disease
• Cardiac arrhythmia
• Arrhythmia, Sinus
• Sick Sinus Syndrome
• Sick Sinus Syndrome 1, Autosomal Recessive
• Sick Sinus Syndrome 2, Autosomal Dominant
• Sinus Node Disease and Myopia
• Sinus Arrest, Cardiac
• Atrial fibrillation
• Atrial Fibrillation, Familial, 8
• Atrial fibrillation, familial 1
• Atrial Fibrillation, Familial, 2
• Atrial Fibrillation, Familial, 3
• Atrial Fibrillation, Familial, 4
• Atrial Fibrillation, Familial, 5
• Atrial Fibrillation, Familial, 6
• Atrial Fibrillation, Familial, 7
• Atrial Flutter
• Atrial Septal Defect, Secundum, with Various Cardiac and Noncardiac Defects
• Bradycardia
• Brugada syndrome
• Brugada Syndrome 6
• Brugada Syndrome 7
• Brugada Syndrome 2
• Brugada Syndrome 3
• Brugada Syndrome 4
• Brugada Syndrome 5
• Brugada Syndrome 8
• Cardiac Conduction Defect
• Cardiac Conduction Defect, Nonspecific
• Sudden unexpected nocturnal death syndrome
• Cardiac Arrhythmia, Ankyrin-B-Related
• Cardiac Complexes, Premature
• Atrial Premature Complexes
• Extrasystoles, Multiform Ventricular, with Short Stature, Hyperpigmentation and Microcephaly
• Ventricular Premature Complexes
• Stoll Alembik Dott syndrome
• Cardiac Conduction Defect, Nonprogressive
• Commotio Cordis
• Heart Block
• Adams-Stokes Syndrome
• Atrial Septal Defect with Atrioventricular Conduction Defects
• ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS
• Atrial Standstill
• Atrioventricular Block
• ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS
• Bundle-Branch Block
• Bundle Branch Block, Familial Isolated Complete Right
• Congenital heart block
• PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA
• Heart Block, Nonprogressive
• Hereditary bundle branch system defect
• Progressive Familial Heart Block, Type Ib
• Progressive Familial Heart Block, Type II
• Sick Sinus Syndrome
• Sick Sinus Syndrome 1, Autosomal Recessive
• Sick Sinus Syndrome 2, Autosomal Dominant
• Sinus Node Disease and Myopia
• Sinoatrial Block
• Mental retardation, keratoconus, febrile seizures, and sinoatrial block
• Long QT Syndrome
• Andersen Syndrome
• Jervell-Lange Nielsen Syndrome
• Jervell And Lange-Nielsen Syndrome 2
• Long QT syndrome type 3
• Long Qt Syndrome 10
• Long Qt Syndrome 11
• Long Qt Syndrome 12
• LONG QT SYNDROME 13
• Long Qt Syndrome 2
• Long Qt Syndrome 2-3
• Long Qt Syndrome 2-5
• Long Qt Syndrome 3
• Long Qt Syndrome 3-6
• Long Qt Syndrome 4
• Long Qt Syndrome 5
• Long Qt Syndrome 6
• Long Qt Syndrome 9
• Romano-Ward Syndrome
• Long Qt Syndrome 1-2
• Timothy syndrome
• Parasystole
• Pre-Excitation Syndromes
• Lown-Ganong-Levine Syndrome
• Pre-Excitation, Mahaim-Type
• Wolff-Parkinson-White Syndrome
• QT INTERVAL, VARIATION IN
• Short Qt Syndrome
• Short QT Syndrome 1
• Short QT Syndrome 2
• Short QT Syndrome 3
• Simpson-Golabi-Behmel syndrome
• Tachycardia
• Atrial Tachyarrhythmia with Short PR Interval
• Bidirectional tachycardia
• Tachycardia, Hypertension, Microphthalmia, And Hyperglycinuria
• Tachycardia, Paroxysmal
• Adams Nance syndrome
• Tachycardia, Reciprocating
• Tachycardia, Atrioventricular Nodal Reentry
• Tachycardia, Sinoatrial Nodal Reentry
• Tachycardia, Supraventricular
• Tachycardia, Ectopic Atrial
• Tachycardia, Ectopic Junctional
• Tachycardia, Sinus
• Tachycardia, Ventricular
• Accelerated Idioventricular Rhythm
• Polymorphic catecholergic ventricular tachycardia
• VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY
• VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2
• VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 3
• Torsades de pointes
• VENTRICULAR TACHYCARDIA, FAMILIAL
• Ventricular Fibrillation
• Paroxysmal ventricular fibrillation
• Ventricular Fibrillation, Paroxysmal Familial, 1
• Ventricular Fibrillation, Paroxysmal Familial, 2
• Ventricular Flutter
• Woodhouse Sakati syndrome
• Ascites
• Atrial Remodeling
• Azotemia
• Cardiotoxicity
• Channelopathies
• Indifference to Pain, Congenital, Autosomal Recessive
• Chromosome Aberrations
• Abnormal Karyotype
• XYY Karyotype
• 47, XYY syndrome
• Aneuploidy
• 49,XXXXX syndrome
• Chromosome 15q, tetrasomy
• Chromosome 18, tetrasomy 18p
• Chromosome 21, tetrasomy 21q
• Chromosome 9, duplication 9q21
• Chromosome 9, tetrasomy 9p
• Monosomy
• Chromosome 18 mosaic monosomy
• Chromosome 21 monosomy
• Chromosome 8 deletion
• CHROMOSOME 8q21.11 DELETION SYNDROME
• Chromosome Deletion
• 10p Deletion Syndrome (Partial)
• 13q deletion syndrome
• CHROMOSOME 13q14 DELETION SYNDROME
• 15q24 Microdeletion
• 16p11.2 Deletion Syndrome
• 7p2 monosomy syndrome
• Chromosome 1, monosomy 1p32
• Chromosome 1, monosomy 1p34 p32
• Chromosome 1, monosomy 1q25 q32
• Chromosome 1, monosomy 1q32 q42
• Chromosome 6, monosomy 6q2
• Chromosome 1, monosomy 1q4
• Chromosome 3, monosomy 3q21 23
• Chromosome 3, monosomy 3q27
• Chromosome 17, deletion 17q23 q24
• Chromosome 6, deletion 6q13 q15
• Chromosome 1p36 Deletion Syndrome
• Chromosome 1, monosomy 1p22 p13
• Chromosome 1, monosomy 1p31 p22
• Chromosome 6, monosomy 6p23
• Chromosome 6, monosomy 6q
• Chromosome 10, monosomy 10q
• Chromosome 10q23 Deletion Syndrome
• Chromosome 10q26 Deletion Syndrome
• Chromosome 11, deletion 11p
• Chromosome 11p Deletion Syndrome
• Chromosome 11p, partial deletion
• Chromosome 11q partial deletion
• Chromosome 12p deletion
• Chromosome 12p partial deletion
• Chromosome 14q, partial deletions
• Chromosome 14q, terminal deletion
• Chromosome 15q13.3 Microdeletion Syndrome
• Chromosome 15q, partial deletion
• Chromosome 17 deletion
• CHROMOSOME 17p13.1 DELETION SYNDROME
• Chromosome 17q21.31 Deletion Syndrome
• Chromosome 18, deletion 18q23
• Chromosome 18 deletion syndrome
• Chromosome 18p deletion syndrome
• Chromosome 19q13.11 Deletion Syndrome
• Chromosome 1, deletion q21 q25
• Chromosome 1, monosomy 1p
• Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb
• Chromosome 1q21.1 Duplication Syndrome
• Chromosome 1q43-Q44 Deletion Syndrome
• Chromosome 20, deletion 20p
• Chromosome 21, monosomy 21q22
• Chromosome 22, microdeletion 22 q11
• Chromosome 22q11.2 Deletion Syndrome, Distal
• Chromosome 6, monosomy 6q1
• Chromosome 2, monosomy 2p22
• Chromosome 2, monosomy 2pter p24
• Chromosome 2, monosomy 2q
• Chromosome 2, monosomy 2q24
• Chromosome 2p16.1-P15 Deletion Syndrome
• Chromosome 2q31.2 Deletion Syndrome
• Chromosome 2q32-Q33 Deletion Syndrome
• Chromosome 2q37 deletion syndrome
• Chromosome 3, monosomy 3p
• Chromosome 3, monosomy 3p14 p11
• Chromosome 3, monosomy 3p2
• Chromosome 3, monosomy 3p25
• Chromosome 3, monosomy 3q13
• CHROMOSOME 3pter-p25 DELETION SYNDROME
• Chromosome 3q29 Deletion Syndrome
• Chromosome 4, 4q Terminal Deletion Syndrome
• Chromosome 4, monosomy 4p14 p16
• Chromosome 4, monosomy 4q32
• Chromosome 4q- Syndrome
• Chromosome 4 short arm deletion
• Chromosome 5q Deletion Syndrome
• Chromosome 6pter-P24 Deletion Syndrome
• Chromosome 7, monosomy
• Chromosome 7, monosomy 7q2
• Chromosome 7, monosomy 7q21
• Chromosome 7, monosomy 7q3
• CHROMOSOME 7q11.23 DELETION SYNDROME, DISTAL, 1.2-MB
• Chromosome 8, monosomy 8p
• Chromosome 8, monosomy 8p23 1
• Chromosome 8, monosomy 8q
• Chromosome 8p deletion syndrome (partial)
• CHROMOSOME 8q21.11 DELETION SYNDROME
• Chromosome 9, partial monosomy 9p
• Chromosome 9p Deletion Syndrome
• Deafness, Sensorineural, And Male Infertility
• Deletion 13q syndrome, partial
• Deletion 6q16 q21
• Fragile Site 16p12
• Holoprosencephaly 10
• Homozygous 11p15-p14 Deletion Syndrome
• Hypertrichosis Terminalis, Generalized, with or without Gingival Hyperplasia
• Hypotonia-Cystinuria Syndrome
• Kleefstra Syndrome
• Male sterility due to Y-chromosome deletions
• Monosomy 7 of Bone Marrow
• NF1 Microdeletion Syndrome
• Otodental Dysplasia
• EXOSTOSES, MULTIPLE, TYPE II
• Prader-Willi-Like Syndrome Associated With Chromosome 6
• Telomeric 22q13 Monosomy Syndrome
• X chromosome, monosomy Xp22 pter
• X chromosome, monosomy Xq28
• Schmid-Fraccaro syndrome
• Tetrasomy
• Trisomy
• 6q+ Syndrome, Partial
• Chromosome 12, trisomy 12q
• Chromosome 13p duplication
• Chromosome 8, trisomy
• Chromosome 10q duplication syndrome
• Chromosome 10, trisomy 10p
• Chromosome 10, trisomy 10pter p13
• Chromosome 10, uniparental disomy of
• Chromosome 11, partial trisomy 11q
• Chromosome 11q trisomy
• Chromosome 12, 12p trisomy
• Chromosome 13q trisomy
• Chromosome 14q, proximal duplication
• Chromosome 14q, terminal duplication
• Chromosome 14 trisomy
• Chromosome 14, trisomy mosaic
• Chromosome 15q, trisomy
• Chromosome 15, trisomy mosaicism
• Chromosome 16, trisomy
• Chromosome 16, trisomy 16q
• Chromosome 17 trisomy
• Chromosome 17, trisomy 17p
• Chromosome 17, trisomy 17p11 2
• Chromosome 17, trisomy 17q22
• Chromosome 18, trisomy 18p
• Chromosome 18, trisomy 18q
• Chromosome 19, trisomy 19q
• Chromosome 1, duplication 1p21 p32
• Chromosome 1, q42 11 q42 12 duplication
• Chromosome 1q, duplication 1q12 q21
• Chromosome 1, trisomy 1q32 qter
• Chromosome 1, trisomy 1q42 qter
• Chromosome 1, uniparental disomy 1q12 q21
• Chromosome 20, trisomy
• Chromosome 21, uniparental disomy of
• Chromosome 5, uniparental disomy
• Chromosome 22, trisomy
• Chromosome 22, trisomy q11 q13
• Chromosome 2, trisomy 2p
• Chromosome 2, trisomy 2p13 p21
• Chromosome 2, trisomy 2pter p24
• Chromosome 2, trisomy 2q
• Chromosome 2, trisomy 2q37
• Chromosome 3 duplication syndrome
• Chromosome 3, trisomy 3p
• Chromosome 3, trisomy 3p25
• Chromosome 3, trisomy 3q
• Chromosome 3, trisomy 3q13 2 q25
• Chromosome 4, partial trisomy distal 4q
• Chromosome 4, trisomy 4q
• Chromosome 4, trisomy 4q21
• Chromosome 4, trisomy 4q25 qter
• Chromosome 5, monosomy 5q35
• Chromosome 5, trisomy 5pter p13 3
• Chromosome 5, trisomy 5q
• Chromosome 6, trisomy 6p
• Chromosome 6, trisomy 6q
• Chromosome 7, trisomy 7p
• Chromosome 7, trisomy 7p13 p12 2
• Chromosome 7, trisomy 7q
• Chromosome 7, trisomy mosaic
• Chromosome 8, mosaic trisomy
• Chromosome 8, partial trisomy
• Chromosome 8, trisomy 8p
• Chromosome 8, trisomy 8q
• Chromosome 9, partial trisomy 9p
• Chromosome 9, trisomy
• Chromosome 9, trisomy 9p
• Chromosome 9, trisomy 9q
• Chromosome 9, trisomy 9q32
• Chromosome 9, trisomy mosaic
• Chromosome Xq duplication syndrome
• Distal Trisomy 10q Syndrome
• Duplication 4p Syndrome
• Partial Duplication 15q Syndrome
• Partial Trisomy 3q Syndrome
• Pseudotrisomy 13 syndrome
• Triple X syndrome
• Trisomy 13 syndrome
• Trisomy 18
• Trisomy 18-Like Syndrome
• Trisomy 20p
• Trisomy 22 mosaicism syndrome
• Warburton Anyane Yeboa syndrome
• X chromosome, duplication Xq13 1 q21 1
• X chromosome, trisomy Xp3
• X chromosome, trisomy Xpter Xq13
• X chromosome, trisomy Xq25
• Chromosomal Instability
• Chromosomal Instability with Tissue-Specific Radiosensitivity
• Chromosome Fragility
• Radiation Sensitivity Chromosome Instability Syndrome, Autosomal Dominant
• Chromosome Breakage
• Craniosynostosis Microcephaly with Chromosomal Breakage and Other Abnormalities
• THROMBOCYTOPENIA 2
• WARSAW BREAKAGE SYNDROME
• Chromosome Duplication
• Chromosome 17p13.3 Duplication Syndrome
• Chromosome 22q11.2 Microduplication Syndrome
• Chromosome 3q29 Duplication Syndrome
• Chromosome 5p13 Duplication Syndrome
• Chromosome Xp11.23-P11.22 Duplication Syndrome
• Chromosome Xq28 Duplication Syndrome
• NF1 Microduplication Syndrome
• Potocki-Lupski syndrome
• Tetrasomy
• Trisomy
• 6q+ Syndrome, Partial
• Chromosome 12, trisomy 12q
• Chromosome 13p duplication
• Chromosome 8, trisomy
• Chromosome 10q duplication syndrome
• Chromosome 10, trisomy 10p
• Chromosome 10, trisomy 10pter p13
• Chromosome 10, uniparental disomy of
• Chromosome 11, partial trisomy 11q
• Chromosome 11q trisomy
• Chromosome 12, 12p trisomy
• Chromosome 13q trisomy
• Chromosome 14q, proximal duplication
• Chromosome 14q, terminal duplication
• Chromosome 14 trisomy
• Chromosome 14, trisomy mosaic
• Chromosome 15q, trisomy
• Chromosome 15, trisomy mosaicism
• Chromosome 16, trisomy
• Chromosome 16, trisomy 16q
• Chromosome 17 trisomy
• Chromosome 17, trisomy 17p
• Chromosome 17, trisomy 17p11 2
• Chromosome 17, trisomy 17q22
• Chromosome 18, trisomy 18p
• Chromosome 18, trisomy 18q
• Chromosome 19, trisomy 19q
• Chromosome 1, duplication 1p21 p32
• Chromosome 1, q42 11 q42 12 duplication
• Chromosome 1q, duplication 1q12 q21
• Chromosome 1, trisomy 1q32 qter
• Chromosome 1, trisomy 1q42 qter
• Chromosome 1, uniparental disomy 1q12 q21
• Chromosome 20, trisomy
• Chromosome 21, uniparental disomy of
• Chromosome 5, uniparental disomy
• Chromosome 22, trisomy
• Chromosome 22, trisomy q11 q13
• Chromosome 2, trisomy 2p
• Chromosome 2, trisomy 2p13 p21
• Chromosome 2, trisomy 2pter p24
• Chromosome 2, trisomy 2q
• Chromosome 2, trisomy 2q37
• Chromosome 3 duplication syndrome
• Chromosome 3, trisomy 3p
• Chromosome 3, trisomy 3p25
• Chromosome 3, trisomy 3q
• Chromosome 3, trisomy 3q13 2 q25
• Chromosome 4, partial trisomy distal 4q
• Chromosome 4, trisomy 4q
• Chromosome 4, trisomy 4q21
• Chromosome 4, trisomy 4q25 qter
• Chromosome 5, monosomy 5q35
• Chromosome 5, trisomy 5pter p13 3
• Chromosome 5, trisomy 5q
• Chromosome 6, trisomy 6p
• Chromosome 6, trisomy 6q
• Chromosome 7, trisomy 7p
• Chromosome 7, trisomy 7p13 p12 2
• Chromosome 7, trisomy 7q
• Chromosome 7, trisomy mosaic
• Chromosome 8, mosaic trisomy
• Chromosome 8, partial trisomy
• Chromosome 8, trisomy 8p
• Chromosome 8, trisomy 8q
• Chromosome 9, partial trisomy 9p
• Chromosome 9, trisomy
• Chromosome 9, trisomy 9p
• Chromosome 9, trisomy 9q
• Chromosome 9, trisomy 9q32
• Chromosome 9, trisomy mosaic
• Chromosome Xq duplication syndrome
• Distal Trisomy 10q Syndrome
• Duplication 4p Syndrome
• Partial Duplication 15q Syndrome
• Partial Trisomy 3q Syndrome
• Pseudotrisomy 13 syndrome
• Triple X syndrome
• Trisomy 13 syndrome
• Trisomy 18
• Trisomy 18-Like Syndrome
• Trisomy 20p
• Trisomy 22 mosaicism syndrome
• Warburton Anyane Yeboa syndrome
• X chromosome, duplication Xq13 1 q21 1
• X chromosome, trisomy Xp3
• X chromosome, trisomy Xpter Xq13
• X chromosome, trisomy Xq25
• Chromosome Inversion
• Duplication 15q11-q13 Syndrome
• Edinburgh Malformation Syndrome
• IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1
• Isochromosomes
• Micronuclei, Chromosome-Defective
• Nondisjunction, Genetic
• Uniparental Disomy
• Chromosome 10, uniparental disomy of
• Chromosome 15, trisomy mosaicism
• Chromosome 16, uniparental disomy
• Chromosome 1, uniparental disomy 1q12 q21
• Chromosome 21, uniparental disomy of
• Chromosome 5, uniparental disomy
• Chromosome 7, trisomy mosaic
• Chromosome 8, mosaic trisomy
• Chromosome 9, trisomy mosaic
• Trisomy 22 mosaicism syndrome
• Uniparental disomy of 11
• Uniparental disomy of 13
• Uniparental disomy of chromosome 2
• Uniparental disomy, paternal, chromosome 14
• Polyploidy
• Diploid-Triploid Mosaicism
• Tetraploidy
• Triploidy
• PREMATURE CHROMATID SEPARATION TRAIT
• Ring Chromosomes
• Chromosome 10 ring
• Chromosome 12 ring
• Chromosome 13 ring
• Chromosome 15 ring
• Chromosome 17 ring
• Chromosome 18 ring
• Chromosome 19 ring
• Chromosome 1 ring
• Chromosome 20 ring
• Chromosome 21 ring
• Chromosome 22 ring
• Chromosome 6 ring syndrome
• Chromosome 7 ring syndrome
• Chromosome 8 ring
• Chromosome 9 Ring
• Ring Chromosome 14 Syndrome
• Ring Chromosome 20 Syndrome
• Ring chromosome 4 syndrome
• Sex Chromosome Aberrations
• 49,XXXXX syndrome
• Chromosome Xq duplication syndrome
• Male sterility due to Y-chromosome deletions
• Tetrasomy X
• Triple X syndrome
• X chromosome, duplication Xq13 1 q21 1
• X chromosome, monosomy Xp22 pter
• X chromosome, monosomy Xq28
• X chromosome, trisomy Xp3
• X chromosome, trisomy Xpter Xq13
• X chromosome, trisomy Xq25
• XYY Karyotype
• 47, XYY syndrome
• Young Hughes syndrome
• Translocation, Genetic
• Chromosome 9 inversion or duplication
• Chromosomes 1 and 2, monosomy 2q duplication 1p
• Philadelphia Chromosome
• SUPERNUMERARY DER(22)t(8
• Death
• Dehydration
• Delayed Graft Function
• Disease
• Syndrome
• Disease Attributes
• Acute Disease
• Asymptomatic Diseases
• Asymptomatic Infections
• Catastrophic Illness
• Chronic Disease
• Convalescence
• Critical Illness
• Disease Progression
• Remission, Spontaneous
• Disease Resistance
• Diseases in Twins
• Disease Susceptibility
• C6 Deficiency, Subtotal
• Echo Virus 11 Sensitivity
• Genetic Predisposition to Disease
• Anticipation, Genetic
• FASTING INSULIN LEVEL QUANTITATIVE TRAIT LOCUS 1
• Mycobacterium tuberculosis, susceptibility to infection by
• MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO
• MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO, 1
• MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO, 2
• MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO, 3
• MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO, X-LINKED
• Emergencies
• Facies
• Al Gazali Aziz Salem syndrome
• Al Gazali Hirschsprung syndrome
• Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges
• Aortic arch anomaly with peculiar facies and mental retardation
• Arthrogryposis, Distal, with Mental Retardation and Characteristic Facies
• Axenfeld-Rieger Anomaly with Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skeletal Abnormalities
• AXENFELD-RIEGER SYNDROME, TYPE 1
• BEAULIEU-BOYCOTT-INNES SYNDROME
• Beemer Ertbruggen syndrome
• Boomerang dysplasia
• Bowen syndrome
• Brachytelephalangy characteristic facies Kallmann
• Brooks-Wisniewski-Brown Syndrome
• Brunoni syndrome
• Burn-Mckeown syndrome
• Cardiofaciocutaneous syndrome
• Cataracts, Congenital, with Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, and Mental Retardation
• Charcot-Marie-Tooth Disease, Guadalajara Neuronal Type
• Chondrodysplasia, Megarbane-Dagher-Melki Type
• Chromosome 10q26 Deletion Syndrome
• Chromosome 5p13 Duplication Syndrome
• Chromosome Xq28 Duplication Syndrome
• Clark-Baraitser syndrome
• Cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss
• Cortical Blindness, Retardation, and Postaxial Polydactyly
• Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism
• Creases, Infra-Auricular Cutaneous, with Tall Stature and Advanced Bone Age
• Cree Mental Retardation Syndrome
• Cold-Induced Sweating Syndrome 1
• Crumpled helices and small mouth
• C SYNDROME
• Cubitus Valgus with Mental Retardation and Unusual Facies
• Cyprus facial neuromusculoskeletal syndrome
• Davis Lafer syndrome
• Deafness-Craniofacial Syndrome
• Der Kaloustian Mcintosh Silver syndrome
• Diabetes Mellitus, Permanent Neonatal, with Cerebellar Agenesis
• Dislocation of Hip, Congenital, with Hyperextensibility of Fingers and Facial Dysmorphism
• Disproportionate Short Stature with Ptosis and Valvular Heart Lesions
• Dubowitz syndrome
• Ectodermal dysplasia alopecia preaxial polydactyly
• Ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features
• Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance and Preaxial Polydactyly of Feet
• Ectrodactyly cardiopathy dysmorphism
• Edinburgh Malformation Syndrome
• FACES syndrome
• Facial Dysmorphism, Selective Tooth Agenesis, and Choroid Calcification
• Faciocardiomelic Syndrome
• Feingold Trainer syndrome
• Fibrochondrogenesis
• Fibromatosis, Gingival, with Distinctive Facies
• Filippi syndrome
• Fryns-Aftimos Syndrome
• Fryns Macrocephaly
• Fryns syndrome
• GELEOPHYSIC DYSPLASIA 1
• Giacheti Syndrome
• Granddad Syndrome
• Growth Retardation, Developmental Delay, Coarse Facies, And Early Death
• Growth Deficiency and Mental Retardation with Facial Dysmorphism
• Growth mental deficiency syndrome of Myhre
• Hadziselimovic Syndrome
• Haspeslagh Fryns Muelenaere syndrome
• Holoprosencephaly 10
• Hydronephrosis, Congenital, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation
• Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphic Features
• Rudiger Syndrome
• Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features
• Hypotonia, Seizures, And Precocious Puberty
• Iris dysplasia hypertelorism deafness
• Irons Bhan syndrome
• Kahrizi Syndrome
• Kaufman oculocerebrofacial syndrome
• KBG syndrome
• Kozlowski-Krajewska syndrome
• Kozlowski Rafinski Klicharska syndrome
• Larsen-Like Syndrome
• Leri pleonosteosis
• Lichtenstein syndrome
• Lymphedema, Cardiac Septal Defects, And Characteristic Facies
• Lymphedema, microcephaly and chorioretinopathy syndrome
• Macrocephaly Autism Syndrome
• Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies
• Malocclusion and Short Stature
• Marfanoid Mental Retardation Syndrome, Autosomal
• McDonough syndrome
• McPherson Clemens syndrome
• Mental Retardation, Buenos Aires Type
• Mental Retardation, Microcephaly, Epilepsy, And Coarse Face
• Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations
• Otoonychoperoneal Syndrome
• Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly
• Microcephaly cervical spine fusion anomalies
• Microcephaly deafness syndrome
• Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance
• Microcephaly, Severe, with Skeletal Anomalies including Posterior Rib-Gap Defects
• Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia
• Mowat-Wilson syndrome
• Multiple Pterygium Syndrome, X-Linked
• NF1 Microduplication Syndrome
• Nicolaides Baraitser syndrome
• Night blindness skeletal anomalies unusual facies
• Omodysplasia 2
• Oroacral Syndrome, Verloes-Koulischer Type
• Osteolysis syndrome recessive
• Palant cleft palate syndrome
• Partington Anderson syndrome
• Pfeiffer Palm Teller syndrome
• Pierre Robin Sequence with Facial and Digital Anomalies
• Pitt-Hopkins syndrome
• Pituitary Hormone Deficiency, Combined, 1
• Plantar Lipomatosis, Unusual Facies, and Developmental Delay
• Progeroid Facial Appearance with Hand Anomalies
• Radioulnar synostosis retinal pigment abnormalities
• Ramos Arroyo Clark syndrome
• Renal and Mullerian Duct Hypoplasia
• Renal dysplasia - limb defects syndrome
• Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
• Robin Sequence with Distinctive Facial Appearance and Brachydactyly
• Roifman-Chitayat Syndrome
• Ruvalcaba Syndrome
• Schrander-Stumpel Theunissen Hulsmans syndrome
• Seckel syndrome 1
• Seckel Syndrome 3
• Short Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly
• Shprintzen omphalocele syndrome
• Spastic paraplegia 23
• Speech Development, Delayed, With Facial Asymmetry, Strabismus, And Transverse Earlobe Crease
• Spinocerebellar Ataxia with Dysmorphism
• Spondyloepiphyseal Dysplasia Tarda with Characteristic Facies
• Thakker Donnai syndrome
• Thomas Jewett Raines syndrome
• Thrombocytopenia Robin sequence
• Trichohepatoenteric Syndrome
• Trichorhinophalangeal Syndrome, Type III
• Urofacial syndrome
• Uruguay Faciocardiomusculoskeletal Syndrome
• White forelock with malformations
• Winter Harding Hyde syndrome
• Young Simpson syndrome
• Zechi-Ceide Syndrome
• Iatrogenic Disease
• Cross Infection
• Pneumonia, Ventilator-Associated
• Late Onset Disorders
• Neglected Diseases
• Rare Diseases
• Recurrence
• Symptom Flare Up
• Dysbiosis
• Emphysema
• Emphysema, Congenital, With Deafness, Penoscrotal Web, And Mental Retardation
• Hemolytic Anemia, Congenital, with Emphysema and Cutis Laxa
• Mediastinal Emphysema
• Subcutaneous Emphysema
• Alpha 1-Antitrypsin Deficiency
• Alpha-1-Antitrypsin Deficiency, Autosomal Recessive
• Extravasation of Diagnostic and Therapeutic Materials
• Femoracetabular Impingement
• Fibrosis
• Cicatrix
• Cicatrix, Hypertrophic
• Keloid
• Acne Keloid
• Torticollis keloids cryptorchidism renal dysplasia
• Tissue Adhesions
• Fibrosis Of Extraocular Muscles, Congenital, 2
• Fibrosis Of Extraocular Muscles, Congenital, 3A, with or without Extraocular Involvement
• Fibrosis of Extraocular Muscles, Congenital, 3B
• Fibrosis of Extraocular Muscles, Congenital, 3C
• Fibrosis of Extraocular Muscles, Congenital, with Synergistic Divergence
• Nephrogenic Fibrosing Dermopathy
• Peritoneal Fibrosis
• Retroperitoneal Fibrosis
• Multifocal fibrosclerosis
• Tukel syndrome
• Genomic Instability
• Chromosomal Instability
• Chromosomal Instability with Tissue-Specific Radiosensitivity
• Chromosome Fragility
• Radiation Sensitivity Chromosome Instability Syndrome, Autosomal Dominant
• Microsatellite Instability
• Gliosis
• Granuloma
• Angiolymphoid Hyperplasia with Eosinophilia
• Churg-Strauss Syndrome
• Eosinophilic Granuloma
• Granuloma, Pyogenic
• Granuloma, Respiratory Tract
• Granuloma, Laryngeal
• Granuloma Annulare
• Granuloma, Foreign-Body
• Granuloma, Giant Cell
• Noonan like syndrome
• NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR
• NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA
• Granuloma, Plasma Cell
• Granulomas, congenital cerebral
• Necrobiotic Xanthogranuloma
• Xanthogranulomatous cholecystitis
• Xanthogranulomatous sialadenitis
• Granulomatosis, Orofacial
• Growth Disorders
• Acrocapitofemoral Dysplasia
• Acrocephalopolydactylous Dysplasia
• Acromegaloid features, overgrowth, cleft palate, and hernia
• Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations
• Al Gazali Khidr Prem Chandran syndrome
• Aphalangia syndactyly microcephaly
• Auriculoosteodysplasia
• Bellini Chiumello Rimoldi syndrome
• Berk-Tabatznik syndrome
• Bhaskar Jagannathan syndrome
• Blepharophimosis with ptosis, syndactyly, and short stature
• Borjeson-Forssman-Lehmann syndrome
• Boudhina Yedes Khiari syndrome
• BRACHYDACTYLY, TYPE E2
• Brooks-Wisniewski-Brown Syndrome
• Cantalamessa Baldini Ambrosi syndrome
• Cantu Sanchez-Corona Fragoso syndrome
• Cataracts, ataxia, short stature, and mental retardation
• Cataracts, Congenital, with Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, and Mental Retardation
• Chitty Hall Baraitser syndrome
• Chromosome 15q26-Qter Deletion Syndrome
• Chromosome 18 Pericentric Inversion
• CHROMOSOME 3pter-p25 DELETION SYNDROME
• Clark-Baraitser syndrome
• CODAS syndrome
• Coffin syndrome 1
• Contractures ectodermal dysplasia cleft lip palate
• Cote Katsantoni syndrome
• Coxoauricular Syndrome
• Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation
• Creases, Infra-Auricular Cutaneous, with Tall Stature and Advanced Bone Age
• Crumpled helices and small mouth
• Curatolo Cilio Pessagno syndrome
• Daish Hardman Lamont syndrome
• Dermoids of cornea
• Devriendt syndrome
• Dubowitz syndrome
• Dyschondrosteosis and Nephritis
• Epithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract
• Extrasystoles, Multiform Ventricular, with Short Stature, Hyperpigmentation and Microcephaly
• Fallot complex with severe mental and growth retardation
• Fetal Growth Retardation
• Bowen-Conradi syndrome
• Camptodactyly syndrome Guadalajara type 2
• Cartwright Nelson Fryns syndrome
• Craniomicromelic Syndrome
• Diabetes Mellitus, Permanent Neonatal, with Cerebellar Agenesis
• Fetal akinesia syndrome, X-linked
• Finnish lethal neonatal metabolic syndrome
• Granddad Syndrome
• Holoprosencephaly with Fetal Akinesia-Hypokinesia Sequence
• Hoyeraal Hreidarsson syndrome
• Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
• Lambotte syndrome
• Microcephalic osteodysplastic primordial dwarfism, type 1
• Microcephalic osteodysplastic primordial dwarfism, type 3
• Microcephalic Osteodysplastic Primordial Dwarfism, Type II
• Microcephaly, Severe, with Skeletal Anomalies including Posterior Rib-Gap Defects
• Neu Laxova syndrome
• Progeroid syndrome, neonatal
• Ray Peterson Scott syndrome
• SECKEL SYNDROME 4
• Sharma Kapoor Ramji syndrome
• Short stature and locking fingers
• Thymic-Renal-Anal-Lung dysplasia
• Trichohepatoenteric Syndrome
• Woods Leversha Rogers syndrome
• Filippi syndrome
• Floating-harbor syndrome
• FORSYTHE-WAKELING SYNDROME
• Frias syndrome
• Game Friedman Paradice syndrome
• Gay Feinmesser Cohen syndrome
• GELEOPHYSIC DYSPLASIA 1
• GEMSS syndrome
• GOMBO syndrome
• Gomez Lopez Hernandez syndrome
• Gonadal Dysgenesis, Hypergonadotropic, XX Type, Short Stature, and Recurrent Metabolic Acidosis
• Goniodysgenesis-Mental Retardation-Short Stature Syndrome
• Growth and Developmental Retardation, Ocular Ptosis, Cardiac Defect, and Anal Atresia
• Growth Deficiency and Mental Retardation with Facial Dysmorphism
• Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy
• Growth mental deficiency syndrome of Myhre
• Growth retardation, Alopecia, Pseudoanodontia and Optic atrophy
• Growth Retardation, Small and Puffy Hands and Feet, and Eczema
• Hairy elbows
• Heme Oxygenase 1 Deficiency
• Hersh Podruch Weisskopk syndrome
• Hooft disease
• Hunter-McAlpine syndrome
• Hutterite cerebroosteonephrodysplasia syndrome
• Hypoparathyroidism-retardation-dysmorphism syndrome
• Insulin-Like Growth Factor I Deficiency
• Insulin-Like Growth Factor I, Resistance To
• Insulin-Like Growth Factor I, Resistance to, due to Increased Binding Protein
• Johanson Blizzard syndrome
• Jorgenson Lenz syndrome
• Krause-Kivlin syndrome
• Kozlowski Rafinski Klicharska syndrome
• Kuster Majewski Hammerstein syndrome
• Ladda Zonana Ramer syndrome
• Langer mesomelic dysplasia
• Laryngotracheal Stenosis, Progressive, with Short Stature and Arthropathy
• Leri-Weil syndrome
• Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
• LIG4 Syndrome
• Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones
• Lowry Maclean syndrome
• Lowry Wood syndrome
• Madelung Deformity
• Macrosomia Adiposa Congenita
• Malocclusion and Short Stature
• Megarbane syndrome
• Meier-Gorlin syndrome
• Mental and Growth Retardation with Amblyopia
• Mental retardation-hypotonic facies syndrome, x-linked, 1
• Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism
• Mental retardation Mietens Weber type
• Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature
• MENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE
• Mental Retardation, X-Linked, with Short Stature
• Microcephaly cervical spine fusion anomalies
• Microdontia hypodontia short stature
• Milner Khallouf Gibson syndrome
• Mitochondrial myopathy with lactic acidosis
• Mollica Pavone Antener syndrome
• Morillo-Cucci Passarge syndrome
• Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay
• Nathalie syndrome
• Neurofaciodigitorenal syndrome
• Nijmegen Breakage Syndrome-Like Disorder
• Micromelic dysplasia, congenital, with dislocation of radius
• Onat syndrome
• OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS
• Osteolysis syndrome recessive
• Partington Anderson syndrome
• Pectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails
• Polydysspondyly
• Petty Laxova Wiedemann syndrome
• Pfeiffer Kapferer syndrome
• Pfeiffer Mayer syndrome
• Pfeiffer Palm Teller syndrome
• Pili torti developmental delay neurological abnormalities
• Pilotto syndrome
• Premature aging, Okamoto type
• Progeria short stature pigmented nevi
• Progeroid Syndrome, Congenital, Petty Type
• Qazi Markouizos syndrome
• Radioulnar synostosis retinal pigment abnormalities
• RAJAB SYNDROME
• Ramon Syndrome
• Reardon Wilson Cavanagh syndrome
• Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
• Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa
• Rodrigues blindness
• Rommen Mueller Sybert syndrome
• Rowley-Rosenberg syndrome
• Say Meyer syndrome
• Say syndrome
• Schaap Taylor Baraitser syndrome
• Schimke X-linked mental retardation syndrome
• Seemanova Lesny syndrome
• Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation
• Short Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly
• Short Stature, Idiopathic, X-Linked
• Short stature syndrome, Brussels type
• SHORT syndrome
• Slavotinek Pike Mills Hurst syndrome
• Sonoda syndrome
• Spastic paraplegia 9, autosomal dominant
• Spondylodysplasia And Premature Pubarche
• Spondylometaphyseal dysplasia, 'corner fracture' type
• Stern Lubinsky Durrie syndrome
• Synostosis of Talus and Calcaneus with Short Stature
• Theodor Hertz Goodman syndrome
• Thrombocytopenia Robin sequence
• Thumb Agenesis, Short Stature, And Immunodeficiency
• Thumb, Hypoplastic, with Choroid Coloboma, Poorly Developed Antihelix, and Deafness
• Tonoki syndrome
• Tsukahara Syndrome
• Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency
• Vertebral body fusion overgrowth
• Viljoen Kallis Voges syndrome
• Volcke Soekarman syndrome
• Wellesley Carmen French syndrome
• Wiedemann Grosse Dibbern syndrome
• Winchester syndrome
• Young Hughes syndrome
• Zerres Rietschel Majewski syndrome
• Zinc Deficiency, Neonatal, due to Low Breast Milk Zinc
• Hemolysis
• Red cell phospholipid defect with hemolysis
• Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis
• Hemorrhage
• BLEEDING DISORDER, PLATELET-TYPE, 8
• Bleeding Disorder Due To P2rx1 Defect
• Blood Loss, Surgical
• Circumvallate Placenta Syndrome
• Ecchymosis
• Epistaxis
• Epistaxis, Hereditary
• Exsanguination
• Eye Hemorrhage
• Choroid Hemorrhage
• Hyphema
• Retinal Hemorrhage
• Brain Small Vessel Disease with Hemorrhage
• Frenkel Russe syndrome
• Vitreous Hemorrhage
• Gastrointestinal Hemorrhage
• Hematemesis
• Melena
• Peptic Ulcer Hemorrhage
• Hemarthrosis
• Hematocele
• Hematoma
• Hematoma, Epidural, Cranial
• Hematoma, Epidural, Spinal
• Hematoma, Subdural
• Hematoma, Subdural, Acute
• Hematoma, Subdural, Chronic
• Hematoma, Subdural, Intracranial
• Hematoma, Subdural, Spinal
• Hematuria
• Coloboma, cleft lip-palate and mental retardation syndrome
• Hematuria, Benign Familial
• Hemobilia
• Hemoperitoneum
• Hemoptysis
• Hemothorax
• Hemopneumothorax
• Intracranial Hemorrhages
• Intracerebral hemorrhage
• Basal Ganglia Hemorrhage
• Putaminal Hemorrhage
• Cerebral Hemorrhage, Traumatic
• Cerebral hemorrhage with amyloidosis, hereditary, Dutch type
• Hematoma, Epidural, Cranial
• Hematoma, Subdural
• Hematoma, Subdural, Acute
• Hematoma, Subdural, Chronic
• Hematoma, Subdural, Intracranial
• Hematoma, Subdural, Spinal
• Intracranial Hemorrhage, Hypertensive
• Intracranial Hemorrhage, Traumatic
• Brain Hemorrhage, Traumatic
• Brain Stem Hemorrhage, Traumatic
• Cerebral Hemorrhage, Traumatic
• Hematoma, Epidural, Cranial
• Hematoma, Subdural
• Hematoma, Subdural, Acute
• Hematoma, Subdural, Chronic
• Hematoma, Subdural, Intracranial
• Hematoma, Subdural, Spinal
• Subarachnoid Hemorrhage, Traumatic
• Pituitary Apoplexy
• Subarachnoid Hemorrhage
• Aneurysm, Intracranial Berry, 1
• Aneurysm, Intracranial Berry, 4
• Aneurysm, Intracranial Berry, 6
• Aneurysm, Intracranial Berry, 7
• Aneurysm, Intracranial Berry, 8
• Aneurysm, Intracranial Berry, 9
• Subarachnoid Hemorrhage, Traumatic
• Oral Hemorrhage
• Gingival Hemorrhage
• Bazopoulou Kyrkanidou syndrome
• Postoperative Hemorrhage
• Endoleak
• Purpura
• Ethylmalonic encephalopathy
• Pigmented purpuric eruption
• Purpura Fulminans
• Purpura, Hyperglobulinemic
• Purpura, Schoenlein-Henoch
• Vascular purpura
• Purpura simplex
• Purpura, Thrombocytopenic
• Acquired amegakaryocytic thrombocytopenia
• Posttransfusion Purpura
• Purpura, Thrombocytopenic, Idiopathic
• Purpura, Thrombotic Thrombocytopenic
• Thrombotic thrombocytopenic purpura, acquired
• Waterhouse-Friderichsen Syndrome
• Fatal pneumococcal Waterhouse-Friderichsen syndrome
• Rapidly progressive glomerulonephritis with pulmonary hemorrhage
• Retrobulbar Hemorrhage
• Shock, Hemorrhagic
• Uterine Hemorrhage
• Menorrhagia
• Metrorrhagia
• Postpartum Hemorrhage
• Hyperamylasemia
• Hyperammonemia
• HHH syndrome
• ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO
• Systemic carnitine deficiency
• Hyperbilirubinemia
• Hyperbilirubinemia, Neonatal
• Hyperbilirubinemia, Transient Familial Neonatal
• Jaundice, Neonatal
• Breastfeeding Jaundice
• Jaundice, Chronic Idiopathic
• Jaundice
• Deal Barratt Dillon syndrome
• Dysmyelination With Jaundice
• Jaundice, Obstructive
• Anemia, hereditary spherocytic hemolytic
• Jaundice, Familial Obstructive, of Infancy
• Lutz Richner Landolt syndrome
• Kernicterus
• Hyperplasia
• Facial Hemihypertrophy
• Hemihyperplasia, Isolated
• Pseudoangiomatous stromal hyperplasia
• Sebaceous gland hyperplasia, familial presenile
• Hyperuricemia
• Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria
• Hyperuricemia, Infantile, with Abnormal Behavior and Normal Hypoxanthine Guanine Phosphoribosyltransferase
• HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 1
• Hyperuricemic Nephropathy, Familial Juvenile 2
• HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 3
• Juvenile gout
• URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 1
• URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 4
• Hypovolemia
• Inflammation
• Acute-Phase Reaction
• Foreign-Body Reaction
• Granuloma, Foreign-Body
• Implant Capsular Contracture
• Neurogenic Inflammation
• Rasmussen subacute encephalitis
• Seroma
• Serositis
• Suppuration
• Abscess
• Abdominal Abscess
• Liver Abscess
• Liver Abscess, Amebic
• Liver Abscess, Pyogenic
• Subphrenic Abscess
• Brain Abscess
• Toxoplasmosis, Cerebral
• Epidural Abscess
• Lung Abscess
• Periapical Abscess
• Periodontal Abscess
• Peritonsillar Abscess
• Psoas Abscess
• Retropharyngeal Abscess
• Zuska's Disease
• Cellulitis
• Orbital Cellulitis
• Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
• Wells syndrome
• Empyema
• Empyema, Pleural
• Empyema, Tuberculous
• Empyema, Subdural
• Hidradenitis Suppurativa
• Hidradenitis suppurativa, familial
• Otitis Media, Suppurative
• Pyomyositis
• Thyroiditis, Suppurative
• Uveitis, Suppurative
• Panophthalmitis
• Systemic Inflammatory Response Syndrome
• Sepsis
• Bacteremia
• Endotoxemia
• Flavimonas oryzihabitans Bacteremia
• Hemorrhagic Septicemia
• Fungemia
• Candidemia
• Parasitemia
• Septic shock
• Viremia
• Hemorrhagic Septicemia, Viral
• Septic shock
• Intraoperative Complications
• Blood Loss, Surgical
• Intraoperative Awareness
• Malignant Hyperthermia
• Contractures, Congenital, Torticollis, and Malignant Hyperthermia
• King Denborough syndrome
• Malignant fever
• Malignant hyperthermia susceptibility type 1
• Malignant hyperthermia susceptibility type 2
• Malignant hyperthermia susceptibility type 3
• Malignant hyperthermia susceptibility type 4
• Malignant hyperthermia susceptibility type 5
• Malignant hyperthermia susceptibility type 6
• Multiple pterygium syndrome
• MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
• Native American myopathy
• Ischemia
• Infarction
• No-Reflow Phenomenon
• Rambaud Galian syndrome
• Leukoaraiosis
• Leukocytosis
• Holoprosencephaly, recurrent infections, and monocytosis
• Leukemoid Reaction
• Myeloproliferative Syndrome, Transient
• Lymphocytosis
• Persistent Polyclonal B-Cell Lymphocytosis
• Sclerosing lymphocytic lobulitis
• Lithiasis
• Long Term Adverse Effects
• Malacoplakia
• Prostatic malacoplakia associated with prostatic abscess
• Menstruation Disturbances
• Amenorrhea
• Al Awadi syndrome
• Calloso-genital dysplasia
• Nonpuerperal galactorrhea
• Dysmenorrhea
• Hymen, Imperforate
• Menorrhagia
• Oligomenorrhea
• Premenstrual Syndrome
• Premenstrual Dysphoric Disorder
• Metaplasia
• Neovascularization, Pathologic
• Choroidal Neovascularization
• Eales disease
• Retinal Neovascularization
• Muscle Weakness
• Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of
• Camera Marugo Cohen syndrome
• Coenzyme Q10 Deficiency
• COENZYME Q10 DEFICIENCY, PRIMARY, 1
• Episodic Muscle Weakness, X-Linked
• Necrosis
• Dental Pulp Necrosis
• DNA Degradation, Necrotic
• Fat Necrosis
• Gangrene
• Infarction
• Osteonecrosis
• Bilateral Kienbock's disease
• Bisphosphonate-Associated Osteonecrosis of the Jaw
• Dieterich's disease
• Femur Head Necrosis
• Legg-Calve-Perthes Disease
• Garret Tripp syndrome
• Neointima
• Neoplastic Processes
• Anaplasia
• Carcinogenesis
• Cell Transformation, Neoplastic
• Blast Crisis
• Cell Transformation, Viral
• Progressive Transformation of Germinal Centers
• Cocarcinogenesis
• Neoplasm Invasiveness
• Leukemic Infiltration
• Neoplasm Metastasis
• Lymphatic Metastasis
• Neoplasm Micrometastasis
• Neoplasm Seeding
• Neoplasms, Unknown Primary
• Neoplastic Cells, Circulating
• Neoplasm Recurrence, Local
• Neoplasm Regression, Spontaneous
• Neoplasm, Residual
• Nerve Degeneration
• Cerebellar degeneration, subacute
• Retrograde Degeneration
• Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
• Striatal Degeneration, Autosomal Dominant
• Subacute Combined Degeneration
• Wallerian Degeneration
• Wallerian degeneration of the pyramidal tract
• Ochronosis
• Alkaptonuric ochronosis
• Ochronosis, hereditary
• Ossification, Heterotopic
• Desbuquois syndrome
• Eagle syndrome
• Leri pleonosteosis
• Osseous Heteroplasia, Progressive
• Ossification of Posterior Longitudinal Ligament
• Ossification of the posterior longitudinal ligament of the spine
• Superior Transverse Scapular Ligament, Calcification Of, Familial
• Polydipsia
• Polydipsia, Psychogenic
• Postoperative Complications
• Afferent Loop Syndrome
• Anastomotic Leak
• Corneal Endothelial Cell Loss
• Coronary-Subclavian Steal Syndrome
• Delayed Emergence from Anesthesia
• Failed Back Surgery Syndrome
• Gas bloat syndrome
• Graft Occlusion, Vascular
• Incisional Hernia
• Malignant Hyperthermia
• Contractures, Congenital, Torticollis, and Malignant Hyperthermia
• King Denborough syndrome
• Malignant fever
• Malignant hyperthermia susceptibility type 1
• Malignant hyperthermia susceptibility type 2
• Malignant hyperthermia susceptibility type 3
• Malignant hyperthermia susceptibility type 4
• Malignant hyperthermia susceptibility type 5
• Malignant hyperthermia susceptibility type 6
• Multiple pterygium syndrome
• MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
• Native American myopathy
• Pain, Postoperative
• Phantom Limb
• Postoperative Hemorrhage
• Endoleak
• Postcholecystectomy Syndrome
• Postgastrectomy Syndromes
• Dumping Syndrome
• Postoperative Nausea and Vomiting
• Postpericardiotomy Syndrome
• Prosthesis Failure
• Implant Capsular Contracture
• Prosthesis-Related Infections
• Reperfusion Injury
• Myocardial Reperfusion Injury
• Primary Graft Dysfunction
• Shock, Surgical
• Short Bowel Syndrome
• Slit Ventricle Syndrome
• Surgical Wound Infection
• Surgical Wound Dehiscence
• Vasoplegia
• Protein Aggregation, Pathological
• Respiratory Aspiration
• Respiratory Aspiration of Gastric Contents
• Retropneumoperitoneum
• Sclerosis
• Mediastinal Fibrosis
• Mesangial sclerosis, diffuse
• Mesangial Sclerosis, Diffuse Renal, with Ocular Abnormalities
• Osteosclerosis with ichthyosis and premature ovarian failure
• Poikiloderma, Hereditary Sclerosing
• Sclerosing lymphocytic lobulitis
• Scleroatonic muscular dystrophy
• Sclerosing bone dysplasia mental retardation
• Shock
• Multiple Organ Failure
• Shock, Cardiogenic
• Shock, Hemorrhagic
• Shock, Surgical
• Shock, Traumatic
• Crush Syndrome
• Systemic Inflammatory Response Syndrome
• Sepsis
• Bacteremia
• Endotoxemia
• Flavimonas oryzihabitans Bacteremia
• Hemorrhagic Septicemia
• Fungemia
• Candidemia
• Parasitemia
• Septic shock
• Viremia
• Hemorrhagic Septicemia, Viral
• Septic shock
• Teratogenesis
• Ulcer
• Umbilical cord ulceration and intestinal atresia
• Vascular Remodeling
• Yang deficiency
• Yin Deficiency
• Signs and Symptoms
• Aging, Premature
• Wolfram Syndrome 2
• Asthenia
• Body Temperature Changes
• Fever
• Cold-Induced Sweating Syndrome 1
• Fever of Unknown Origin
• Fever, Familial Lifelong Persistent
• Hyperthermia, Cutaneous, With Headaches And Nausea
• Pelger-Huet-Like Anomaly and Episodic Fever with Abdominal Pain
• Periodic fever, familial, autosomal dominant
• Sweating Sickness
• Hypothermia
• Recurrent spontaneous hypothermia with hypoplasia of the corpus callosum
• Shapiro syndrome
• Body weight
• Birth weight
• Fetal Macrosomia
• Macrosomia obesity macrocephaly ocular abnormalities
• Macrosomia with lethal microphthalmia
• Nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor
• Pseudotrisomy 13 syndrome
• Body Weight Changes
• Weight Gain
• Weight Loss
• Emaciation
• Cachexia
• FACES syndrome
• Groll Hirschowitz syndrome
• Fetal Weight
• Overweight
• Obesity
• ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 2
• ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 3
• Ayazi syndrome
• Biemond Syndrome II
• Biemond syndrome type 2
• BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 12
• BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 10
• BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 11
• BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 13
• BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 14
• BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 4
• BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 7
• BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 8
• BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 9
• Borjeson-Forssman-Lehmann syndrome
• Camera Marugo Cohen syndrome
• Clark-Baraitser syndrome
• Cohen syndrome
• Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
• FASTING INSULIN LEVEL QUANTITATIVE TRAIT LOCUS 1
• Macrosomia obesity macrocephaly ocular abnormalities
• MEHMO syndrome
• Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia
• MOMES Syndrome
• MORM syndrome
• Obesity, Abdominal
• Obesity, Hyperphagia, and Developmental Delay
• Obesity Hypoventilation Syndrome
• Obesity, Metabolically Benign
• Obesity, Morbid
• Pediatric Obesity
• Prader-Willi Syndrome
• Prader-Willi habitus, osteopenia, and camptodactyly
• Prader-Willi-Like Syndrome Associated With Chromosome 6
• Prolactin Deficiency with Obesity and Enlarged Testes
• Proopiomelanocortin Deficiency
• Proprotein Convertase 1 3 Deficiency
• Short Stature-Obesity Syndrome
• Vasquez Hurst Sotos syndrome
• Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome
• Wilson-Turner X-linked mental retardation syndrome
• Young Hughes syndrome
• Thinness
• CK SYNDROME
• Cardiac Output, High
• Cardiac Output, Low
• Chills
• Cyanosis
• Cyanosis and Hepatic Disease
• Infantile Apparent Life-Threatening Event
• Rombo syndrome
• Eye Manifestations
• Eye Pain
• Eye Hemorrhage
• Choroid Hemorrhage
• Hyphema
• Retinal Hemorrhage
• Vitreous Hemorrhage
• Susac Syndrome
• Edema
• Edema, Familial Idiopathic, Prepubertal
• Edema, Cardiac
• Enteropathy, Familial, with Villous Edema and Immunoglobulin G2 Deficiency
• Hydrops Fetalis
• Dehydrated Hereditary Stomatocytosis, Pseudohyperkalemia, and Perinatal Edema
• Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphic Features
• Nuchal bleb, familial
• Xerocytosis, hereditary
• Ketoadipicaciduria
• Landy Donnai syndrome
• Failure to Thrive
• Cardiofaciocutaneous syndrome
• Delayed Cranial Ossification due to CBFB Haploinsufficiency
• Edinburgh Malformation Syndrome
• Growth Retardation, Developmental Delay, Coarse Facies, And Early Death
• Secretory Diarrhea, Myopathy, and Deafness
• Fatigue
• Corticosteroid-Binding Globulin Deficiency
• Mental Fatigue
• Compassion Fatigue
• Feminization
• Fetal Distress
• Flushing
• Chlorpropamide-Alcohol Flushing
• Harlequin syndrome
• Heart Murmurs
• Systolic Murmurs
• Hot Flashes
• Hypergammaglobulinemia
• Capillary leak syndrome with monoclonal gammopathy
• Hyperimmunoglobulin G1(A1) Syndrome
• Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, and Glomerulonephritis
• Mevalonate Kinase Deficiency
• Monoclonal Gammopathy of Undetermined Significance
• Schnitzler Syndrome
• Hyperlactatemia
• Hypertriglyceridemic Waist
• Intermittent Claudication
• Mobility Limitation
• Motion sickness
• Mal de debarquement
• Space Motion Sickness
• Myocardial Stunning
• Neurologic Manifestations
• Cerebrospinal Fluid Leak
• Cerebrospinal Fluid Otorrhea
• Cerebrospinal Fluid Rhinorrhea
• Decerebrate State
• Diabetes Mellitus, Permanent Neonatal, With Neurologic Features
• Dyskinesias
• Ataxia
• Abetalipoproteinemia neuropathy
• Arts syndrome
• Ataxia and Polyneuropathy, Adult-Onset
• Ataxia, Deafness, and Cardiomyopathy
• Ataxia-Microcephaly-Cataract Syndrome
• ATAXIA, SENSORY, 1, AUTOSOMAL DOMINANT
• Ataxia, Sensory, Autosomal Dominant
• Ataxia, Spastic, with Congenital Miosis
• Ataxia with Fasciculations
• Ataxia with Myoclonic Epilepsy and Presenile Dementia
• Ataxia with vitamin E deficiency
• Atonic-Astatic Syndrome of Foerster
• Bangstad syndrome
• Behr syndrome
• Bhaskar Jagannathan syndrome
• CANOMAD syndrome
• Carnitine Acetyltransferase Deficiency
• Cataract ataxia deafness
• Cataracts, ataxia, short stature, and mental retardation
• Cerebellar Ataxia
• 3-Methylglutaconic Aciduria, Type V
• Aniridia cerebellar ataxia mental deficiency
• Ataxia, Spastic, 1, Autosomal Dominant
• Ataxia, Spastic, 2, Autosomal Recessive
• Ataxia, Spastic, 3, Autosomal Recessive
• Autosomal Recessive Cerebellar Ataxia Type 1
• Brachydactyly-Nystagmus-Cerebellar Ataxia
• Branchial Myoclonus with Spastic Paraparesis and Cerebellar Ataxia
• CAPOS syndrome
• Cerebellar Ataxia and Hypergonadotropic Hypogonadism
• Cerebellar Ataxia and Hypogonadotropic Hypogonadism
• Cerebellar Ataxia and Neurosensory Deafness
• Cerebellar Ataxia, Benign, with Thermoanalgesia
• Cerebellar Ataxia, Cayman Type
• Cerebellar Ataxia, Deafness, and Narcolepsy
• Cerebellar ataxia ectodermal dysplasia
• Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
• Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
• Cerebellar hypoplasia with endosteal sclerosis
• Cerebelloparenchymal Disorder II
• Dementia, familial Danish
• Dysequilibrium syndrome
• Early-onset ataxia with oculomotor apraxia and hypoalbuminemia
• Episodic Ataxia, Type 6
• Episodic Ataxia, Type 5
• Furukawa Takagi Nakao syndrome
• Harding ataxia
• Hemiplegic migraine, familial type 1
• Herrmann syndrome
• Laryngeal Abductor Paralysis with Cerebellar Ataxia and Motor Neuropathy
• Mainzer-Saldino Disease
• Marinesco-Sjogren-like syndrome (MSLS)
• Myelocerebellar Disorder
• Myoclonus, Cerebellar Ataxia, and Deafness
• Neuhauser Eichner Opitz syndrome
• Renal Tubulopathy, Diabetes Mellitus, and Cerebellar Ataxia due to Duplication of Mitochondrial DNA
• Spinocerebellar Ataxias
• Anemia, sideroblastic spinocerebellar ataxia
• Ataxia Telangiectasia
• Ataxia Telangiectasia Like Disorder
• ATAXIA-TELANGIECTASIA-LIKE DISORDER 1
• Ataxia-Telangiectasia Variant
• Ataxia-Telangiectasia Variant V2
• Ataxia-Telangiectasia with Generalized Skin Pigmentation and Early Death
• Chorioretinal Dystrophy, Spinocerebellar Ataxia, and Hypogonadotropic Hypogonadism
• Gemignani syndrome
• Machado-Joseph Disease
• Spinocerebellar ataxia, X-linked, 3
• MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE)
• Spastic Ataxia
• Spastic ataxia Charlevoix-Saguenay type
• Spinocerebellar Ataxia 10
• Spinocerebellar Ataxia 11
• Spinocerebellar Ataxia 12
• Spinocerebellar ataxia 13
• Spinocerebellar ataxia 14
• Spinocerebellar Ataxia 15
• Spinocerebellar Ataxia 17
• Spinocerebellar ataxia 20
• Spinocerebellar ataxia 25
• Spinocerebellar ataxia 26
• Spinocerebellar ataxia 28
• Spinocerebellar ataxia 30
• Spinocerebellar Ataxia 31
• Spinocerebellar Ataxia And Plaque-Like Deposits
• Spinocerebellar ataxia, autosomal recessive 1
• Spinocerebellar Ataxia, Autosomal Recessive 7
• Spinocerebellar Ataxia, Autosomal Recessive 8
• Spinocerebellar Ataxia, Autosomal Recessive 9
• Spinocerebellar Ataxia with Dysmorphism
• Spinocerebellar Ataxia with Epilepsy
• Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
• Spinocerebellar Ataxia, X-Linked 1
• Spinocerebellar Ataxia, X-Linked 5
• Cerebral Palsy, Ataxic, Autosomal Recessive
• Cerebroretinal Microangiopathy with Calcifications and Cysts
• COACH syndrome
• Coenzyme Q10 Deficiency
• COENZYME Q10 DEFICIENCY, PRIMARY, 1
• Deafness hyperuricemia neurologic ataxia
• Diaminopentanuria
• Episodic Ataxia, Type 7
• Episodic Ataxia
• Episodic Ataxia, Type 1
• Episodic Ataxia, Type 2
• Episodic Ataxia, Type 3
• Episodic Ataxia, Type 4
• Erythrokeratodermia with ataxia
• Fragile X Tremor Ataxia Syndrome
• Gait Ataxia
• Hypotonia, congenital nystagmus, ataxia and abnormal auditory brainstem response
• Joubert Syndrome 7
• Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism
• Mental Retardation, X-Linked, Syndromic, Christianson Type
• Muscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes Mellitus
• Myokymia 1
• Paroxysmal Tonic Upgaze, Benign Childhood, With Ataxia
• Partington X-linked mental retardation syndrome
• Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, and Spongy Degeneration of Brain
• Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
• Posterior column ataxia with retinitis pigmentosa
• Reardon Wilson Cavanagh syndrome
• Richards-Rundle syndrome
• SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE
• Spastic Paraplegia, Ataxia, And Mental Retardation
• Spondyloepimetaphyseal dysplasia, Genevieve type
• Tapetoretinal Degeneration with Ataxia
• Treft Sanborn Carey syndrome
• Tremor of Intention, Ataxia, and Lipofuscinosis
• Tryptophanuria With Dwarfism
• Athetosis
• Choreoathetosis, Familial Inverted
• Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress
• Hhhh Syndrome
• Bobble-head doll syndrome
• Catalepsy
• Chorea
• Chorea, Benign Familial
• Chorea Gravidarum
• Chorea, remitting with nystagmus and cataracts
• Choreoathetosis, Familial Inverted
• Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress
• Costeff optic atrophy syndrome
• Generalized Epilepsy and Paroxysmal Dyskinesia
• Huntington Disease
• Huntington Disease-Like 1
• Huntington Disease-Like 3
• Westphal disease
• Huntington Disease-Like 2
• Neuroacanthocytosis
• Neuroacanthocytosis, Mcleod Type
• Paroxysmal nonkinesigenic dyskinesia
• Paroxysmal Nonkinesigenic Dyskinesia 2
• Choreoathetosis-Spasticity, Episodic
• Dyskinesia, Drug-Induced
• Dyskinesia, Familial, with Facial Myokymia
• Limb dystonia
• Amyotrophic Dystonic Paraplegia
• Cervical Dystonia, Primary
• Dystonia 13, Torsion
• Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency
• Dystonia with Cerebellar Atrophy
• Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp
• Familial paroxysmal dystonia
• Dystonia 18
• LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY
• Leukoencephalopathy with Dystonia and Motor Neuropathy, SCPx-Deficient
• Marsden syndrome
• Jensen syndrome
• Torsion dystonia with onset in infancy
• Torticollis
• Congenital torticollis
• Contractures, Congenital, Torticollis, and Malignant Hyperthermia
• Sandifer syndrome
• Torticollis keloids cryptorchidism renal dysplasia
• Episodic Kinesigenic Dyskinesia 2
• Hyperkinesis
• Hypokinesia
• German Syndrome
• Infantile convulsions and paroxysmal choreoathetosis, familial
• Mental Retardation, X-Linked, Syndromic 10
• Microcephaly pontocerebellar hypoplasia dyskinesia
• MIRROR MOVEMENTS 1
• Myoclonus
• Branchial Myoclonus with Spastic Paraparesis and Cerebellar Ataxia
• Convulsive Disorder, Familial, with Prenatal or Early Onset
• EPILEPSY, PROGRESSIVE MYOCLONIC, 4, WITH OR WITHOUT RENAL FAILURE
• Feigenbaum Bergeron Richardson syndrome
• Herrmann syndrome
• Jankovic Rivera syndrome
• Myoclonus, Cerebellar Ataxia, and Deafness
• Nystagmus, Myoclonic
• Opsoclonus-Myoclonus Syndrome
• Infantile polymyoclonus
• Paroxysmal Exertion-Induced Dyskinesia And Hemolytic Anemia
• Psychomotor Agitation
• Akathisia, Drug-Induced
• Synkinesis
• Kallmann Syndrome 2 with Bimanual Synkinesia
• Levator-Medial Rectus Synkinesis
• Tics
• Tremor
• Fragile X Tremor Ataxia Syndrome
• Geniospasm
• MENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE
• Primary orthostatic tremor
• Tremor hereditary essential, 2
• Tremor of Intention, Ataxia, and Lipofuscinosis
• Gait Disorders, Neurologic
• Gait Apraxia
• Gait Ataxia
• Meningism
• Neurobehavioral Manifestations
• Anhedonia
• Catatonia
• Presenile dementia, Kraepelin type
• Communication Disorders
• Childhood-Onset Fluency Disorder
• Language Disorders
• Agraphia
• Anomia
• Dyslexia
• Dyslexia, Acquired
• Alexia, Pure
• Stormorken Syndrome
• Giacheti Syndrome
• Hyperlexia
• Language Development Disorders
• Guanidinoacetate methyltransferase deficiency
• Mehes syndrome
• MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES
• Speech Development, Delayed, With Facial Asymmetry, Strabismus, And Transverse Earlobe Crease
• SPECIFIC LANGUAGE IMPAIRMENT 1
• SPECIFIC LANGUAGE IMPAIRMENT 2
• SPECIFIC LANGUAGE IMPAIRMENT 3
• SPEECH-LANGUAGE DISORDER 1
• Speech Disorders
• Aphasia
• Aphasia, Broca
• Aphasia, Conduction
• Aphasia, Primary Progressive

· Primary Progressive Nonfluent Aphasia

• Aphasia, Wernicke
• Dysphasia, Familial Developmental
• Arginine:Glycine Amidinotransferase Deficiency
• Articulation Disorders
• Dysarthria

· Auditory perceptual impairment

· Bahemuka Brown syndrome

· Fitzsimmons-Guilbert syndrome

· Foix Chavany Marie syndrome

· Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis

· Worster Drought syndrome

• Atonic-Astatic Syndrome of Foerster
• CHROMOSOME 17p13.1 DELETION SYNDROME
• Echolalia
• Maxillofacial Dysostosis
• MENTAL RETARDATION, AUTOSOMAL DOMINANT 20
• Mutism
• Non-lissencephalic cortical dysplasia
• Opticocochleodentate Degeneration
• Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked
• Speech disturbance - use of faulty phrasing and unrelated words
• Stuttering
• STUTTERING, FAMILIAL PERSISTENT, 1
• Stuttering, Familial Persistent 2
• Learning Disorders
• Chromosome 10q26 Deletion Syndrome
• CHROMOSOME 7q11.23 DELETION SYNDROME, DISTAL, 1.2-MB
• Dyscalculia
• Dyslexia
• Dyslexia, Acquired
• Alexia, Pure
• Stormorken Syndrome
• Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders
• Giacheti Syndrome
• NF1 Microdeletion Syndrome
• Riddle Syndrome
• Slavotinek Pike Mills Hurst syndrome
• Specific Learning Disorder
• Social Communication Disorder
• Speech Sound Disorder
• Speech-Sound Disorder, hereditary
• Confusion
• Carnitine Acetyltransferase Deficiency
• Delirium
• Consciousness Disorders
• Unconsciousness
• Coma
• Persistent Vegetative State
• Stupor
• Syncope
• Stoll Alembik Dott syndrome
• Syncope, Vasovagal
• Familial neurocardiogenic syncope
• Intellectual Disability
• 15q24 Microdeletion
• 16p11.2 Deletion Syndrome
• Absent Eyebrows and Eyelashes with Mental Retardation
• Acrodysostosis
• Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations
• AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency
• Akesson syndrome
• Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus
• Al Gazali Aziz Salem syndrome
• Alopecia contractures dwarfism mental retardation
• Alopecia epilepsy oligophrenia syndrome of Moynahan
• Alopecia, epilepsy, pyorrhea, mental subnormality
• Alopecia-Mental Retardation Syndrome 1
• Alopecia-Mental Retardation Syndrome 2
• ALOPECIA-MENTAL RETARDATION SYNDROME 3
• Alopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism
• Alopecia, Neurologic Defects, and Endocrinopathy Syndrome
• Alpha-Thalassemia Mental Retardation Syndrome, Deletion-Type
• Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis
• Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis
• Amyloidosis of Gingiva and Conjunctiva, with Mental Retardation
• Amyotrophic Dystonic Paraplegia
• Anemia, Congenital Hypoplastic, with Multiple Congenital Anomalies-Mental Retardation Syndrome
• Aniridia cerebellar ataxia mental deficiency
• Ansell Bywaters Elderking syndrome
• Aortic arch anomaly with peculiar facies and mental retardation
• Aphalangia, Partial, with Syndactyly and Duplication of Metatarsal IV
• Arachnodactyly ataxia cataract aminoaciduria mental retardation
• Arginine:Glycine Amidinotransferase Deficiency
• Arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies
• Arthrogryposis, Distal, with Mental Retardation and Characteristic Facies
• Aughton syndrome
• Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation
• Baraitser Rodeck Garner syndrome
• Battaglia Neri syndrome
• BEAULIEU-BOYCOTT-INNES SYNDROME
• Behr syndrome
• Bellini Chiumello Rimoldi syndrome
• Biemond Syndrome II
• Biemond syndrome type 2
• Birk-Barel Mental Retardation Dysmorphism Syndrome
• Blepharophimosis syndrome Ohdo type
• Blepharophimosis with Facial and Genital Anomalies and Mental Retardation
• Bohring syndrome
• Boudhina Yedes Khiari syndrome
• Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear-Eye Anomalies, Cleft Palate-Cryptorchidism, And Kidney Dysplasia-Hypoplasia
• Brunner Syndrome
• Bullous Dystrophy, Hereditary Macular Type
• Camera Marugo Cohen syndrome
• CAHMR syndrome
• Cantalamessa Baldini Ambrosi syndrome
• Cantu Sanchez-Corona Fragoso syndrome
• Cartwright Nelson Fryns syndrome
• Cataract, Congenital, with Mental Impairment and Dentate Gyrus Atrophy
• Cataracts, ataxia, short stature, and mental retardation
• Cataracts, Congenital, with Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, and Mental Retardation
• Cephalin Lipidosis
• Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
• Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
• Cerebral Cavernous Malformations 2
• Cerebral Cavernous Malformations 3
• Cerebrocostomandibular Syndrome
• Cerebrofaciothoracic Dysplasia
• Cerebrooculofacioskeletal Syndrome 2
• Cerebrooculofacioskeletal Syndrome 4
• Cerebrooculonasal Syndrome
• Choroid plexus calcification with mental retardation
• CHROMOSOME 13q14 DELETION SYNDROME
• Chromosome 15q13.3 Microdeletion Syndrome
• Chromosome 15q26-Qter Deletion Syndrome
• CHROMOSOME 17p13.1 DELETION SYNDROME
• Chromosome 17q21.31 Deletion Syndrome
• Chromosome 18 Pericentric Inversion
• Chromosome 1q21.1 Duplication Syndrome
• Chromosome 1q43-Q44 Deletion Syndrome
• Chromosome 2q31.2 Deletion Syndrome
• Chromosome 2q32-Q33 Deletion Syndrome
• Chromosome 3q29 Deletion Syndrome
• CHROMOSOME 7q11.23 DELETION SYNDROME, DISTAL, 1.2-MB
• CHROMOSOME 8q21.11 DELETION SYNDROME
• Chromosome Xq28 Duplication Syndrome
• Chudley-Rozdilsky syndrome
• Cleft palate
• Coffin-Siris syndrome
• Coffin syndrome 1
• Cohen syndrome
• Coloboma, cleft lip-palate and mental retardation syndrome
• Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
• Coloboma, Uveal, with Cleft Lip and Palate and Mental Retardation
• Convulsive Disorder, Familial, with Prenatal or Early Onset
• Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia
• Cortical Blindness, Retardation, and Postaxial Polydactyly
• Craniofaciofrontodigital Syndrome
• Craniosynostosis Mental Retardation Clefting Syndrome
• Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig
• Cree Mental Retardation Syndrome
• Cri-du-Chat Syndrome
• Chromosome 5, uniparental disomy
• Chromosome 5, monosomy 5q35
• Chromosome 5, trisomy 5p
• Chromosome 5, trisomy 5pter p13 3
• Chromosome 5, trisomy 5q
• Monosomy 5p
• Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly
• Cubitus Valgus with Mental Retardation and Unusual Facies
• Curatolo Cilio Pessagno syndrome
• Cutis Verticis Gyrata and Mental Deficiency
• Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Subnormal Mentality
• Davis Lafer syndrome
• Deafness, Cochlear, with Myopia and Intellectual Impairment
• Deafness, congenital onychodystrophy, recessive form
• De Barsy syndrome
• De Lange Syndrome
• Brachmann-De Lange-Like Facial Changes With Microcephaly, Metatarsus Adductus, And Developmental Delay
• De Sanctis-Cacchione syndrome
• Devriendt syndrome
• Diabetes Insipidus, Nephrogenic, with Mental Retardation and Intracerebral Calcification
• Dicarboxylicaminoaciduria
• Digitorenocerebral Syndrome
• Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, And Mental Retardation
• Down syndrome
• Dubowitz syndrome
• Duker Weiss Siber syndrome
• Duplication 15q11-q13 Syndrome
• Dwarfism, Low-Birth-Weight Type, with Unresponsiveness to Growth Hormone
• Dyggve-Melchior-Clausen syndrome
• Dysequilibrium syndrome
• Dysmyelination With Jaundice
• Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Agenesis of the Corpus Callosum
• Ectodermal dysplasia mental retardation syndactyly
• Elliott Ludman Teebi syndrome
• Emanuel syndrome
• Emphysema, Congenital, With Deafness, Penoscrotal Web, And Mental Retardation
• Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration
• Epidermolysis bullosa, late-onset localized junctional, with mental retardation
• Epilepsy, Female-Restricted, with Mental Retardation
• Epilepsy, Photogenic, with Spastic Diplegia and Mental Retardation
• Epilepsy telangiectasia
• Facial Abnormalities, Kyphoscoliosis, and Mental Retardation
• Faciocardiomelic Syndrome
• Fallot complex with severe mental and growth retardation
• Feingold Trainer syndrome
• Fg Syndrome 5
• Fibromatosis, Gingival, with Hypertrichosis and Mental Retardation
• Filippi syndrome
• Fine-Lubinsky syndrome
• Fitzsimmons-McLachlan-Gilbert syndrome
• Fitzsimmons Walson Mellor syndrome
• Fountain syndrome
• FRONTONASAL DYSPLASIA 3
• Fryns-Aftimos Syndrome
• Garret Tripp syndrome
• Genitopatellar Syndrome
• Goniodysgenesis-Mental Retardation-Short Stature Syndrome
• Growth and Developmental Retardation, Ocular Ptosis, Cardiac Defect, and Anal Atresia
• Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate
• Growth Deficiency and Mental Retardation with Facial Dysmorphism
• Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy
• Growth mental deficiency syndrome of Myhre
• Gurrieri Sammito Bellussi syndrome
• Hair defect with photosensitivity and mental retardation
• Hall Riggs mental retardation syndrome
• Harrod Doman Keele syndrome
• Haspeslagh Fryns Muelenaere syndrome
• Histidinemia
• Hittner Hirsch Kreh syndrome
• Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
• Hooft disease
• Hordnes Engebretsen Knudtson syndrome
• Hoyeraal Hreidarsson syndrome
• Hunter-McAlpine syndrome
• Hydronephrosis, Congenital, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation
• Hydroxylysinuria
• Hyperleucine-Isoleucinemia
• Hyperlysinemia Due To Defect In Lysine Transport Into Mitochondria
• Hyperphosphatasia with Mental Retardation
• HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1
• HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3
• Hypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility
• Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features
• Hyperuricemia, Infantile, with Abnormal Behavior and Normal Hypoxanthine Guanine Phosphoribosyltransferase
• Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
• Hypogonadism with Low-Grade Mental Deficiency and Microcephaly
• Hypoparathyroidism-retardation-dysmorphism syndrome
• Hypospadias-Mental Retardation Syndrome
• Hypotonia-Cystinuria Syndrome
• Ichthyosis and male hypogonadism
• Ichthyosis, mental retardation, dwarfism, and renal impairment
• Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin
• Indolylacroyl Glycinuria with Mental Retardation
• Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
• Jagell Holmgren Hofer syndrome
• Johanson Blizzard syndrome
• Joubert Syndrome 7
• Joubert Syndrome 9
• Kahrizi Syndrome
• Kaler Garrity Stern syndrome
• Kapur Toriello syndrome
• Karandikar Maria Kamble syndrome
• Katsantoni Papadakou Lagoyanni syndrome
• Kaufman oculocerebrofacial syndrome
• KBG syndrome
• Kleefstra Syndrome
• Koone Rizzo Elias syndrome
• Kosztolanyi syndrome
• Kozlowski-Krajewska syndrome
• Kozlowski Ouvrier syndrome
• Kozlowski Rafinski Klicharska syndrome
• Kuzniecky syndrome
• Lambert syndrome
• Lenz Majewski hyperostotic dwarfism
• Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
• Light Fixation Seizure Syndrome
• Limb Defects, Distal Transverse, with Mental Retardation and Spasticity
• Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones
• Lissencephaly 3
• Lowry Maclean syndrome
• Lowry Wood syndrome
• Lubani Al Saleh Teebi syndrome
• Lynch Lee Murday syndrome
• Macrogyria, pseudobulbar palsy and mental retardation
• Macrosomia obesity macrocephaly ocular abnormalities
• Male pseudohermaphroditism-mental retardation syndrome, Verloes type
• Mandibulofacial Dysostosis with Mental Deficiency
• Marfanoid Mental Retardation Syndrome, Autosomal
• Marinesco-Sjogren-like syndrome (MSLS)
• Martin-Probst Deafness-Mental Retardation Syndrome
• Martsolf syndrome
• MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome
• McDonough syndrome
• Mental and Growth Retardation with Amblyopia
• MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS
• Mental Retardation associated with Psoriasis
• Mental Retardation, Autosomal Dominant 1
• MENTAL RETARDATION, AUTOSOMAL DOMINANT 20
• Mental Retardation, Autosomal Dominant 3
• Mental Retardation, Autosomal Dominant 4
• Mental Retardation, Autosomal Dominant 5
• Mental Retardation, Autosomal Recessive 1
• Mental Retardation, Autosomal Recessive 10
• Mental Retardation, Autosomal Recessive 11
• Mental Retardation, Autosomal Recessive 12
• Mental Retardation, Autosomal Recessive 13
• MENTAL RETARDATION, AUTOSOMAL RECESSIVE 16
• Mental Retardation, Autosomal Recessive 2
• Mental Retardation, Autosomal Recessive 3
• Mental Retardation, Autosomal Recessive 4
• Mental Retardation, Autosomal Recessive 5
• Mental Retardation, Autosomal Recessive 6
• Mental Retardation, Autosomal Recessive 7
• Mental Retardation, Autosomal Recessive 8
• Mental Retardation, Autosomal Recessive 9
• Mental Retardation, Buenos Aires Type
• Mental Retardation, Fra12a Type
• Mental Retardation, Joint Hypermobility, And Skin Laxity, With Or Without Metabolic Abnormalities
• Mental retardation, keratoconus, febrile seizures, and sinoatrial block
• Mental retardation, macrocephaly, short stature and craniofacial dysmorphism
• Mental Retardation, Microcephaly, Epilepsy, And Coarse Face
• Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism
• Mental retardation Mietens Weber type
• Mental Retardation, Severe, With Spasticity And Pigmentary Tapetoretinal Degeneration
• Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations
• Mental Retardation, Skeletal Dysplasia, and Abducens Palsy
• Mental retardation Smith Fineman Myers type
• Mental retardation spasticity ectrodactyly
• Mental retardation syndrome, Belgian type
• MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES
• Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature
• Mental Retardation with Spastic Paraplegia
• Mental retardation Wolff type
• Mental Retardation, X-Linked
• Abidi X-linked mental retardation syndrome
• Adrenoleukodystrophy
• Peroxisomal ACYL-COA oxidase deficiency
• PEROXISOME BIOGENESIS DISORDER 2B
• Wells Jankovic syndrome
• Aldred syndrome
• Allan-Herndon-Dudley syndrome
• Armfield X-Linked Mental Retardation Syndrome
• Atkin syndrome
• Arena syndrome
• ATR-X syndrome
• Borjeson-Forssman-Lehmann syndrome
• Brooks-Wisniewski-Brown Syndrome
• Chromosome Xp11.3 Deletion Syndrome
• Coffin-Lowry Syndrome
• CK SYNDROME
• Clark-Baraitser syndrome
• Classical Lissencephalies and Subcortical Band Heterotopias
• Band Heterotopia of Brain
• Double cortex
• Lissencephaly and agenesis of corpus callosum
• Lissencephaly, X-Linked, 2
• Subcortical Band Heterotopia, X-Linked
• Cowchock syndrome
• Creatine deficiency, X-linked
• Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
• Faciogenital Dysplasia with Attention Deficit-Hyperactivity Disorder
• Fragile X Syndrome
• Fragile X Tremor Ataxia Syndrome
• Primary Ovarian Insufficiency, Fragile X-Associated
• Saul Wilkes Stevenson syndrome
• Glycogen Storage Disease Type IIb
• Lesch-Nyhan Syndrome
• Lesch-Nyhan Syndrome, Neurologic Variant
• Lubs X-linked mental retardation syndrome
• Lujan Fryns syndrome
• Mental Retardation, X-Linked 45
• Mental Retardation, X-Linked 46
• MEHMO syndrome
• Menkes Kinky Hair Syndrome
• Hair defect with photosensitivity and mental retardation
• Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia
• Mental retardation-hypotonic facies syndrome, x-linked, 1
• Mental retardation, X-linked 14
• Mental Retardation, X-Linked 1
• Mental Retardation, X-Linked 17
• Mental Retardation, X-Linked 19
• Mental Retardation, X-Linked 2
• Mental Retardation, X-Linked 20
• MENTAL RETARDATION, X-LINKED 21
• Mental Retardation, X-Linked 23
• Mental Retardation, X-Linked 3
• Mental Retardation, X-Linked 30
• Mental Retardation, X-Linked 31
• Mental Retardation, X-Linked 34
• Mental Retardation, X-Linked 42
• Mental Retardation, X-Linked 47
• MENTAL RETARDATION, X-LINKED 49
• Mental Retardation, X-Linked 50
• Mental Retardation, X-Linked 52
• Mental Retardation, X-Linked 53
• Mental Retardation, X-Linked 58
• Mental Retardation, X-Linked 63
• Mental Retardation, X-Linked 72
• Mental Retardation, X-Linked 73
• Mental Retardation, X-Linked 77
• Mental Retardation, X-Linked 78
• Mental Retardation, X-Linked 81
• Mental Retardation, X-Linked 82
• Mental Retardation, X-Linked 84
• Mental Retardation, X-Linked 89
• Mental Retardation, X-Linked 9
• Mental Retardation, X-Linked 91
• Mental Retardation, X-Linked 92
• Mental Retardation, X-Linked 93
• Mental Retardation, X-Linked 94
• Mental Retardation, X-Linked 95
• MENTAL RETARDATION, X-LINKED 96
• Mental Retardation, X-Linked Nonsyndromic
• Mental retardation X-linked, South African type
• Mental Retardation, X-Linked, Syndromic 10
• Mental Retardation with Psychosis, Pyramidal Signs, and Macroorchidism
• Mental Retardation, X-Linked 16
• Mental Retardation, X-Linked 79
• Mental Retardation, X-Linked, Syndromic 14
• Mental Retardation, X-Linked 59
• Mental retardation X-linked syndromic 7
• Mental Retardation, X-Linked, Syndromic 9
• Mental Retardation, X-Linked, Syndromic, Jarid1c-Related
• MENTAL RETARDATION, X-LINKED, SYNDROMIC, RAYMOND TYPE
• Mental Retardation, X-Linked, Syndromic, Ube2a-Related
• Mental Retardation, X-Linked, Syp-Related
• Mental Retardation, X-Linked, With Brachydactyly And Macroglossia
• MENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE
• Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance
• Mental Retardation, X-Linked, with Epilepsy
• Mental Retardation, X-Linked, with Isolated Growth Hormone Deficiency
• Mental Retardation, X-Linked, With Or Without Seizures, Arx-Related
• Mental Retardation, X-Linked, with Short Stature
• Mental Retardation, X-Linked, With Spasticity
• Microphthalmia, Syndromic 4
• Miles-Carpenter x-linked mental retardation syndrome
• Mucopolysaccharidosis II
• Opitz-Kaveggia syndrome
• Orofaciodigital syndrome, Shashi type
• Partington X-linked mental retardation syndrome
• Plagiocephaly and X-linked mental retardation
• Ppm-X Syndrome
• Prieto X-linked mental retardation syndrome
• Pyruvate Dehydrogenase Complex Deficiency Disease
• Phosphoenolpyruvate carboxykinase 2 deficiency
• Pyruvate Dehydrogenase E1-Beta Deficiency
• Pyruvate Dehydrogenase E2 Deficiency
• Pyruvate Dehydrogenase E3-Binding Protein Deficiency
• Renpenning syndrome 1
• Rett Syndrome
• Epileptic Encephalopathy, Early Infantile, 2
• Rett Syndrome, Atypical
• RETT SYNDROME, CONGENITAL VARIANT
• Rett Syndrome, Preserved Speech Variant
• Rett Syndrome, Zappella Variant
• Roifman syndrome
• Schimke X-linked mental retardation syndrome
• Siderius X-linked mental retardation syndrome
• Snyder Robinson syndrome
• Stocco dos Santos syndrome
• Tranebjaerg Svejgaard syndrome
• Wilson-Turner X-linked mental retardation syndrome
• X-linked mental retardation Gustavson type
• X-linked mental retardation type Wittwer
• Mental Retardation, X-Linked, Syndromic 12
• Mental Retardation, X-Linked, Syndromic, Christianson Type
• Mental Retardation, X-Linked, Syndromic, Turner Type
• Mental Retardation, X-Linked, Syndromic, Zdhhc9-Related
• Mental Retardation, X-Linked, With Panhypopituitarism
• Mental Retardation, X-Linked, Znf711-Related
• Metaphyseal Dysostosis, Mental Retardation, and Conductive Deafness
• Methionine Malabsorption Syndrome
• Microcephalic primordial dwarfism Toriello type
• Microcephaly cervical spine fusion anomalies
• Microcephaly, corpus callosum dysgenesis and cleft lip-palate
• Microcephaly deafness syndrome
• Microcephaly, Facial Abnormalities, Micromelia, and Mental Retardation
• Microcephaly, Macrotia, And Mental Retardation
• Microcephaly seizures mental retardation heart disorders
• Microcephaly sparse hair mental retardation seizures
• Microcephaly with Mental Retardation and Digital Anomalies
• Microphthalmia and mental deficiency
• Mirhosseini-Holmes-Walton syndrome
• Jensen syndrome
• Mollica Pavone Antener syndrome
• MOMES Syndrome
• Morillo-Cucci Passarge syndrome
• MORM syndrome
• Mowat-Wilson syndrome
• Muscular Dystrophy, Congenital, associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation
• Muscular Dystrophy, Congenital, plus Mental Retardation
• MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1
• MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2
• MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3
• Muscular Dystrophy, Congenital, Type 1D
• Myotonia with Skeletal Abnormalities and Mental Retardation
• Nakamura Osame syndrome
• Neuhauser syndrome
• Neurofaciodigitorenal syndrome
• Neurologic Disease, Infantile Multisystem, with Osseous Fragility
• NF1 Microdeletion Syndrome
• NF1 Microduplication Syndrome
• Nicolaides Baraitser syndrome
• N syndrome
• Oculodigitoesophagoduodenal syndrome
• Oliver-McFarlane syndrome
• Oliver Syndrome
• Onychotrichodysplasia and neutropenia
• Ophthalmoplegia, Progressive, with Scrotal Tongue and Mental Deficiency
• Opitz trigonocephaly syndrome
• Osteolysis syndrome recessive
• PACHYGYRIA WITH MENTAL RETARDATION, SEIZURES, AND ARACHNOID CYSTS
• Palant cleft palate syndrome
• Pallister W syndrome
• Parastremmatic dwarfism
• Parkinsonism, early onset with mental retardation
• Pashayan syndrome
• Patella hypoplasia mental retardation
• Pavone Fiumara Rizzo syndrome
• Perisylvian syndrome
• Perniola Krajewska Carnevale syndrome
• Pfeiffer Kapferer syndrome
• Pfeiffer Mayer syndrome
• Pfeiffer Tietze Welte syndrome
• Pilotto syndrome
• Pitt-Hopkins syndrome
• Piussan Lenaerts Mathieu syndrome
• Prader-Willi Syndrome
• Prader-Willi habitus, osteopenia, and camptodactyly
• Prader-Willi-Like Syndrome Associated With Chromosome 6
• Primrose syndrome
• Prolonged Bleeding Time, Brachydactyly, and Mental Retardation
• Proud Syndrome
• Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness
• Pseudoaminopterin syndrome
• Pseudouridinuria and Mental Defect
• Pterygium colli mental retardation digital anomalies
• Qazi Markouizos syndrome
• Radioulnar synostosis retinal pigment abnormalities
• Ramon Syndrome
• Ramos Arroyo Clark syndrome
• Reardon Wilson Cavanagh syndrome
• Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
• Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism
• Richards-Rundle syndrome
• Robin Sequence with Distinctive Facial Appearance and Brachydactyly
• Rolandic Epilepsy, Mental Retardation, And Speech Dyspraxia, Autosomal Dominant
• Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked
• Rubinstein-Taybi Syndrome
• Chromosome 16p13.3 Deletion Syndrome
• Rubinstein Taybi like syndrome
• Rud Syndrome
• Ruzicka Goerz Anton syndrome
• Sammartino De Crecchio Syndrome
• Sao Paulo MCA-MR Syndrome
• Scaphocephaly, Maxillary Retrusion, And Mental Retardation
• SCARF syndrome
• Schinzel-Giedion syndrome
• Schofer Beetz Bohl syndrome
• Scholte syndrome
• Schrander-Stumpel Theunissen Hulsmans syndrome
• Sclerosing bone dysplasia mental retardation
• Scott Bryant Graham syndrome
• Seckel Syndrome 3
• SECKEL SYNDROME 4
• Seemanova Lesny syndrome
• SeSAME syndrome
• Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, And Atypical Clefting
• Simpson-Golabi-Behmel syndrome
• Singh Chhaparwal Dhanda syndrome
• Skeletal Defects, Genital Hypoplasia, And Mental Retardation
• Sketetal dysplasia coarse facies mental retardation
• Spastic Ataxia
• Spastic diplegia infantile type
• Spastic paraplegia 14, autosomal recessive
• Spastic Paraplegia 18, Autosomal Recessive
• Spastic Paraplegia 32, Autosomal Recessive
• Spastic Paraplegia, Ataxia, And Mental Retardation
• Spastic paraplegia epilepsy mental retardation
• Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy
• Spastic Paresis, Glaucoma, and Mental Retardation
• Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation
• Spinal Muscular Atrophy with Mental Retardation
• Spinal Muscular Atrophy with Microcephaly and Mental Subnormality
• Spondyloepimetaphyseal dysplasia, Genevieve type
• Spondyloepiphyseal Dysplasia Tarda with Mental Retardation
• Spondyloepiphyseal Dysplasia With Coronal Craniosynostosis, Cataracts, Cleft Palate, And Mental Retardation
• Stevenson-Carey Syndrome
• Sucrosuria, Hiatus Hernia and Mental Retardation
• SUPERNUMERARY DER(22)t(8
• Tamari Goodman syndrome
• Temple-Baraitser Syndrome
• Temtamy preaxial brachydactyly syndrome
• Tetrasomy X
• Tonoki syndrome
• Trichodental syndrome
• TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE
• Tryptophanuria With Dwarfism
• Tsukahara Syndrome
• Ulna hypoplasia with mental retardation
• Ulnar Hypoplasia with Mental Retardation
• Upton Young syndrome
• Van Bogaert-Hozay syndrome
• Van Den Bosch Syndrome
• Van Maldergem Wetzburger Verloes syndrome
• Vasquez Hurst Sotos syndrome
• Verloes Gillerot Fryns syndrome
• Viljoen Kallis Voges syndrome
• Vitiligo, Progressive, with Mental Retardation and Urethral Duplication
• Volcke Soekarman syndrome
• WAGR Syndrome
• Chromosome 11p Deletion Syndrome
• Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome
• Walker Dyson syndrome
• Warburg Sjo Fledelius syndrome
• Warburton Anyane Yeboa syndrome
• Wiedemann Grosse Dibbern syndrome
• Wiedemann Oldigs Oppermann syndrome
• Williams Syndrome
• Williams-Beuren Region Duplication Syndrome
• Winship Viljoen Leary syndrome
• Worster Drought syndrome
• Woodhouse Sakati syndrome
• Yorifuji Okuno syndrome
• Young Hughes syndrome
• Young Simpson syndrome
• Zazam Sheriff Phillips syndrome
• Zechi-Ceide Syndrome
• Zerres Rietschel Majewski syndrome
• Zlotogora-Ogur syndrome
• Zunich neuroectodermal syndrome
• 15q24 Microdeletion
• 16p11.2 Deletion Syndrome
• Absent Eyebrows and Eyelashes with Mental Retardation
• Acrodysostosis
• Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations
• AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency
• Akesson syndrome
• Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus
• Al Gazali Aziz Salem syndrome
• Alopecia contractures dwarfism mental retardation
• Alopecia epilepsy oligophrenia syndrome of Moynahan
• Alopecia, epilepsy, pyorrhea, mental subnormality
• Alopecia-Mental Retardation Syndrome 1
• Alopecia-Mental Retardation Syndrome 2
• ALOPECIA-MENTAL RETARDATION SYNDROME 3
• Alopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism
• Alopecia, Neurologic Defects, and Endocrinopathy Syndrome
• Alpha-Thalassemia Mental Retardation Syndrome, Deletion-Type
• Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis
• Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis
• Amyloidosis of Gingiva and Conjunctiva, with Mental Retardation
• Amyotrophic Dystonic Paraplegia
• Anemia, Congenital Hypoplastic, with Multiple Congenital Anomalies-Mental Retardation Syndrome
• Aniridia cerebellar ataxia mental deficiency
• Ansell Bywaters Elderking syndrome
• Aortic arch anomaly with peculiar facies and mental retardation
• Aphalangia, Partial, with Syndactyly and Duplication of Metatarsal IV
• Arachnodactyly ataxia cataract aminoaciduria mental retardation
• Arginine:Glycine Amidinotransferase Deficiency
• Arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies
• Arthrogryposis, Distal, with Mental Retardation and Characteristic Facies
• Aughton syndrome
• Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation
• Baraitser Rodeck Garner syndrome
• Battaglia Neri syndrome
• BEAULIEU-BOYCOTT-INNES SYNDROME
• Behr syndrome
• Bellini Chiumello Rimoldi syndrome
• Biemond Syndrome II
• Biemond syndrome type 2
• Birk-Barel Mental Retardation Dysmorphism Syndrome
• Blepharophimosis syndrome Ohdo type
• Blepharophimosis with Facial and Genital Anomalies and Mental Retardation
• Bohring syndrome
• Boudhina Yedes Khiari syndrome
• Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear-Eye Anomalies, Cleft Palate-Cryptorchidism, And Kidney Dysplasia-Hypoplasia
• Brunner Syndrome
• Bullous Dystrophy, Hereditary Macular Type
• Camera Marugo Cohen syndrome
• CAHMR syndrome
• Cantalamessa Baldini Ambrosi syndrome
• Cantu Sanchez-Corona Fragoso syndrome
• Cartwright Nelson Fryns syndrome
• Cataract, Congenital, with Mental Impairment and Dentate Gyrus Atrophy
• Cataracts, ataxia, short stature, and mental retardation
• Cataracts, Congenital, with Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, and Mental Retardation
• Cephalin Lipidosis
• Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
• Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
• Cerebral Cavernous Malformations 2
• Cerebral Cavernous Malformations 3
• Cerebrocostomandibular Syndrome
• Cerebrofaciothoracic Dysplasia
• Cerebrooculofacioskeletal Syndrome 2
• Cerebrooculofacioskeletal Syndrome 4
• Cerebrooculonasal Syndrome
• Choroid plexus calcification with mental retardation
• CHROMOSOME 13q14 DELETION SYNDROME
• Chromosome 15q13.3 Microdeletion Syndrome
• Chromosome 15q26-Qter Deletion Syndrome
• CHROMOSOME 17p13.1 DELETION SYNDROME
• Chromosome 17q21.31 Deletion Syndrome
• Chromosome 18 Pericentric Inversion
• Chromosome 1q21.1 Duplication Syndrome
• Chromosome 1q43-Q44 Deletion Syndrome
• Chromosome 2q31.2 Deletion Syndrome
• Chromosome 2q32-Q33 Deletion Syndrome
• Chromosome 3q29 Deletion Syndrome
• CHROMOSOME 7q11.23 DELETION SYNDROME, DISTAL, 1.2-MB
• CHROMOSOME 8q21.11 DELETION SYNDROME
• Chromosome Xq28 Duplication Syndrome
• Chudley-Rozdilsky syndrome
• Cleft palate
• Coffin-Siris syndrome
• Coffin syndrome 1
• Cohen syndrome
• Coloboma, cleft lip-palate and mental retardation syndrome
• Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
• Coloboma, Uveal, with Cleft Lip and Palate and Mental Retardation
• Convulsive Disorder, Familial, with Prenatal or Early Onset
• Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia
• Cortical Blindness, Retardation, and Postaxial Polydactyly
• Craniofaciofrontodigital Syndrome
• Craniosynostosis Mental Retardation Clefting Syndrome
• Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig
• Cree Mental Retardation Syndrome
• Cri-du-Chat Syndrome
• Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly
• Cubitus Valgus with Mental Retardation and Unusual Facies
• Curatolo Cilio Pessagno syndrome
• Cutis Verticis Gyrata and Mental Deficiency
• Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Subnormal Mentality
• Davis Lafer syndrome
• Deafness, Cochlear, with Myopia and Intellectual Impairment
• Deafness, congenital onychodystrophy, recessive form
• De Barsy syndrome
• De Lange Syndrome
• De Sanctis-Cacchione syndrome
• Devriendt syndrome
• Diabetes Insipidus, Nephrogenic, with Mental Retardation and Intracerebral Calcification
• Dicarboxylicaminoaciduria
• Digitorenocerebral Syndrome
• Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, And Mental Retardation
• Down syndrome
• Dubowitz syndrome
• Duker Weiss Siber syndrome
• Duplication 15q11-q13 Syndrome
• Dwarfism, Low-Birth-Weight Type, with Unresponsiveness to Growth Hormone
• Dyggve-Melchior-Clausen syndrome
• Dysequilibrium syndrome
• Dysmyelination With Jaundice
• Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Agenesis of the Corpus Callosum
• Ectodermal dysplasia mental retardation syndactyly
• Elliott Ludman Teebi syndrome
• Emanuel syndrome
• Emphysema, Congenital, With Deafness, Penoscrotal Web, And Mental Retardation
• Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration
• Epidermolysis bullosa, late-onset localized junctional, with mental retardation
• Epilepsy, Female-Restricted, with Mental Retardation
• Epilepsy, Photogenic, with Spastic Diplegia and Mental Retardation
• Epilepsy telangiectasia
• Facial Abnormalities, Kyphoscoliosis, and Mental Retardation
• Faciocardiomelic Syndrome
• Fallot complex with severe mental and growth retardation
• Feingold Trainer syndrome
• Fg Syndrome 5
• Fibromatosis, Gingival, with Hypertrichosis and Mental Retardation
• Filippi syndrome
• Fine-Lubinsky syndrome
• Fitzsimmons-McLachlan-Gilbert syndrome
• Fitzsimmons Walson Mellor syndrome
• Fountain syndrome
• FRONTONASAL DYSPLASIA 3
• Fryns-Aftimos Syndrome
• Garret Tripp syndrome
• Genitopatellar Syndrome
• Goniodysgenesis-Mental Retardation-Short Stature Syndrome
• Growth and Developmental Retardation, Ocular Ptosis, Cardiac Defect, and Anal Atresia
• Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate
• Growth Deficiency and Mental Retardation with Facial Dysmorphism
• Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy
• Growth mental deficiency syndrome of Myhre
• Gurrieri Sammito Bellussi syndrome
• Hair defect with photosensitivity and mental retardation
• Hall Riggs mental retardation syndrome
• Harrod Doman Keele syndrome
• Haspeslagh Fryns Muelenaere syndrome
• Histidinemia
• Hittner Hirsch Kreh syndrome
• Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
• Hooft disease
• Hordnes Engebretsen Knudtson syndrome
• Hoyeraal Hreidarsson syndrome
• Hunter-McAlpine syndrome
• Hydronephrosis, Congenital, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation
• Hydroxylysinuria
• Hyperleucine-Isoleucinemia
• Hyperlysinemia Due To Defect In Lysine Transport Into Mitochondria
• Hyperphosphatasia with Mental Retardation
• Hypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility
• Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features
• Hyperuricemia, Infantile, with Abnormal Behavior and Normal Hypoxanthine Guanine Phosphoribosyltransferase
• Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
• Hypogonadism with Low-Grade Mental Deficiency and Microcephaly
• Hypoparathyroidism-retardation-dysmorphism syndrome
• Hypospadias-Mental Retardation Syndrome
• Hypotonia-Cystinuria Syndrome
• Ichthyosis and male hypogonadism
• Ichthyosis, mental retardation, dwarfism, and renal impairment
• Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin
• Indolylacroyl Glycinuria with Mental Retardation
• Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
• Jagell Holmgren Hofer syndrome
• Johanson Blizzard syndrome
• Joubert Syndrome 7
• Joubert Syndrome 9
• Kahrizi Syndrome
• Kaler Garrity Stern syndrome
• Kapur Toriello syndrome
• Karandikar Maria Kamble syndrome
• Katsantoni Papadakou Lagoyanni syndrome
• Kaufman oculocerebrofacial syndrome
• KBG syndrome
• Kleefstra Syndrome
• Koone Rizzo Elias syndrome
• Kosztolanyi syndrome
• Kozlowski-Krajewska syndrome
• Kozlowski Ouvrier syndrome
• Kozlowski Rafinski Klicharska syndrome
• Kuzniecky syndrome
• Lambert syndrome
• Lenz Majewski hyperostotic dwarfism
• Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
• Light Fixation Seizure Syndrome
• Limb Defects, Distal Transverse, with Mental Retardation and Spasticity
• Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones
• Lissencephaly 3
• Lowry Maclean syndrome
• Lowry Wood syndrome
• Lubani Al Saleh Teebi syndrome
• Lynch Lee Murday syndrome
• Macrogyria, pseudobulbar palsy and mental retardation
• Macrosomia obesity macrocephaly ocular abnormalities
• Male pseudohermaphroditism-mental retardation syndrome, Verloes type
• Mandibulofacial Dysostosis with Mental Deficiency
• Marfanoid Mental Retardation Syndrome, Autosomal
• Marinesco-Sjogren-like syndrome (MSLS)
• Martin-Probst Deafness-Mental Retardation Syndrome
• Martsolf syndrome
• MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome
• McDonough syndrome
• Mental and Growth Retardation with Amblyopia
• MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS
• Mental Retardation associated with Psoriasis
• Mental Retardation, Autosomal Dominant 1
• MENTAL RETARDATION, AUTOSOMAL DOMINANT 20
• Mental Retardation, Autosomal Dominant 3
• Mental Retardation, Autosomal Dominant 4
• Mental Retardation, Autosomal Dominant 5
• Mental Retardation, Autosomal Recessive 1
• Mental Retardation, Autosomal Recessive 10
• Mental Retardation, Autosomal Recessive 11
• Mental Retardation, Autosomal Recessive 12
• Mental Retardation, Autosomal Recessive 13
• MENTAL RETARDATION, AUTOSOMAL RECESSIVE 16
• Mental Retardation, Autosomal Recessive 2
• Mental Retardation, Autosomal Recessive 3
• Mental Retardation, Autosomal Recessive 4
• Mental Retardation, Autosomal Recessive 5
• Mental Retardation, Autosomal Recessive 6
• Mental Retardation, Autosomal Recessive 7
• Mental Retardation, Autosomal Recessive 8
• Mental Retardation, Autosomal Recessive 9
• Mental Retardation, Buenos Aires Type
• Mental Retardation, Fra12a Type
• Mental Retardation, Joint Hypermobility, And Skin Laxity, With Or Without Metabolic Abnormalities
• Mental retardation, keratoconus, febrile seizures, and sinoatrial block
• Mental retardation, macrocephaly, short stature and craniofacial dysmorphism
• Mental Retardation, Microcephaly, Epilepsy, And Coarse Face
• Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism
• Mental retardation Mietens Weber type
• Mental Retardation, Severe, With Spasticity And Pigmentary Tapetoretinal Degeneration
• Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations
• Mental Retardation, Skeletal Dysplasia, and Abducens Palsy
• Mental retardation Smith Fineman Myers type
• Mental retardation spasticity ectrodactyly
• Mental retardation syndrome, Belgian type
• MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES
• Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature
• Mental Retardation with Spastic Paraplegia
• Mental retardation Wolff type
• Mental Retardation, X-Linked
• Mental Retardation, X-Linked, Syndromic 12
• Mental Retardation, X-Linked, Syndromic, Christianson Type
• Mental Retardation, X-Linked, Syndromic, Turner Type
• Mental Retardation, X-Linked, Syndromic, Zdhhc9-Related
• Mental Retardation, X-Linked, With Panhypopituitarism
• Mental Retardation, X-Linked, Znf711-Related
• Metaphyseal Dysostosis, Mental Retardation, and Conductive Deafness
• Methionine Malabsorption Syndrome
• Microcephalic primordial dwarfism Toriello type
• Microcephaly cervical spine fusion anomalies
• Microcephaly, corpus callosum dysgenesis and cleft lip-palate
• Microcephaly deafness syndrome
• Microcephaly, Facial Abnormalities, Micromelia, and Mental Retardation
• Microcephaly, Macrotia, And Mental Retardation
• Microcephaly seizures mental retardation heart disorders
• Microcephaly sparse hair mental retardation seizures
• Microcephaly with Mental Retardation and Digital Anomalies
• Microphthalmia and mental deficiency
• Mirhosseini-Holmes-Walton syndrome
• Jensen syndrome
• Mollica Pavone Antener syndrome
• MOMES Syndrome
• Morillo-Cucci Passarge syndrome
• MORM syndrome
• Mowat-Wilson syndrome
• Muscular Dystrophy, Congenital, associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation
• Muscular Dystrophy, Congenital, plus Mental Retardation
• MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1
• MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2
• MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3
• Muscular Dystrophy, Congenital, Type 1D
• Myotonia with Skeletal Abnormalities and Mental Retardation
• Nakamura Osame syndrome
• Neuhauser syndrome
• Neurofaciodigitorenal syndrome
• Neurologic Disease, Infantile Multisystem, with Osseous Fragility
• NF1 Microdeletion Syndrome
• NF1 Microduplication Syndrome
• Nicolaides Baraitser syndrome
• N syndrome
• Oculodigitoesophagoduodenal syndrome
• Oliver-McFarlane syndrome
• Oliver Syndrome
• Onychotrichodysplasia and neutropenia
• Ophthalmoplegia, Progressive, with Scrotal Tongue and Mental Deficiency
• Opitz trigonocephaly syndrome
• Osteolysis syndrome recessive
• PACHYGYRIA WITH MENTAL RETARDATION, SEIZURES, AND ARACHNOID CYSTS
• Palant cleft palate syndrome
• Pallister W syndrome
• Parastremmatic dwarfism
• Parkinsonism, early onset with mental retardation
• Pashayan syndrome
• Patella hypoplasia mental retardation
• Pavone Fiumara Rizzo syndrome
• Perisylvian syndrome
• Perniola Krajewska Carnevale syndrome
• Pfeiffer Kapferer syndrome
• Pfeiffer Mayer syndrome
• Pfeiffer Tietze Welte syndrome
• Pilotto syndrome
• Pitt-Hopkins syndrome
• Piussan Lenaerts Mathieu syndrome
• Prader-Willi Syndrome
• Primrose syndrome
• Prolonged Bleeding Time, Brachydactyly, and Mental Retardation
• Proud Syndrome
• Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness
• Pseudoaminopterin syndrome
• Pseudouridinuria and Mental Defect
• Pterygium colli mental retardation digital anomalies
• Qazi Markouizos syndrome
• Radioulnar synostosis retinal pigment abnormalities
• Ramon Syndrome
• Ramos Arroyo Clark syndrome
• Reardon Wilson Cavanagh syndrome
• Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
• Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism
• Richards-Rundle syndrome
• Robin Sequence with Distinctive Facial Appearance and Brachydactyly
• Rolandic Epilepsy, Mental Retardation, And Speech Dyspraxia, Autosomal Dominant
• Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked
• Rubinstein-Taybi Syndrome
• Rud Syndrome
• Ruzicka Goerz Anton syndrome
• Sammartino De Crecchio Syndrome
• Sao Paulo MCA-MR Syndrome
• Scaphocephaly, Maxillary Retrusion, And Mental Retardation
• SCARF syndrome
• Schinzel-Giedion syndrome
• Schofer Beetz Bohl syndrome
• Scholte syndrome
• Schrander-Stumpel Theunissen Hulsmans syndrome
• Sclerosing bone dysplasia mental retardation
• Scott Bryant Graham syndrome
• Seckel Syndrome 3
• SECKEL SYNDROME 4
• Seemanova Lesny syndrome
• SeSAME syndrome
• Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, And Atypical Clefting
• Simpson-Golabi-Behmel syndrome
• Singh Chhaparwal Dhanda syndrome
• Skeletal Defects, Genital Hypoplasia, And Mental Retardation
• Sketetal dysplasia coarse facies mental retardation
• Spastic Ataxia
• Spastic diplegia infantile type
• Spastic paraplegia 14, autosomal recessive
• Spastic Paraplegia 18, Autosomal Recessive
• Spastic Paraplegia 32, Autosomal Recessive
• Spastic Paraplegia, Ataxia, And Mental Retardation
• Spastic paraplegia epilepsy mental retardation
• Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy
• Spastic Paresis, Glaucoma, and Mental Retardation
• Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation
• Spinal Muscular Atrophy with Mental Retardation
• Spinal Muscular Atrophy with Microcephaly and Mental Subnormality
• Spondyloepimetaphyseal dysplasia, Genevieve type
• Spondyloepiphyseal Dysplasia Tarda with Mental Retardation
• Spondyloepiphyseal Dysplasia With Coronal Craniosynostosis, Cataracts, Cleft Palate, And Mental Retardation
• Stevenson-Carey Syndrome
• Sucrosuria, Hiatus Hernia and Mental Retardation
• SUPERNUMERARY DER(22)t(8
• Tamari Goodman syndrome
• Temple-Baraitser Syndrome
• Temtamy preaxial brachydactyly syndrome
• Tetrasomy X
• Tonoki syndrome
• Trichodental syndrome
• TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE
• Tryptophanuria With Dwarfism
• Tsukahara Syndrome
• Ulna hypoplasia with mental retardation
• Ulnar Hypoplasia with Mental Retardation
• Upton Young syndrome
• Van Bogaert-Hozay syndrome
• Van Den Bosch Syndrome
• Van Maldergem Wetzburger Verloes syndrome
• Vasquez Hurst Sotos syndrome
• Verloes Gillerot Fryns syndrome
• Viljoen Kallis Voges syndrome
• Vitiligo, Progressive, with Mental Retardation and Urethral Duplication
• Volcke Soekarman syndrome
• WAGR Syndrome
• Walker Dyson syndrome
• Warburg Sjo Fledelius syndrome
• Warburton Anyane Yeboa syndrome
• Wiedemann Grosse Dibbern syndrome
• Wiedemann Oldigs Oppermann syndrome
• Williams Syndrome
• Winship Viljoen Leary syndrome
• Worster Drought syndrome
• Woodhouse Sakati syndrome
• Yorifuji Okuno syndrome
• Young Hughes syndrome
• Young Simpson syndrome
• Zazam Sheriff Phillips syndrome
• Zechi-Ceide Syndrome
• Zerres Rietschel Majewski syndrome
• Zlotogora-Ogur syndrome
• Zunich neuroectodermal syndrome
• Lethargy
• Memory Disorders
• Amnesia
• Alcohol Amnestic Disorder
• Alcohol induced encephalopathy
• Korsakoff Syndrome
• Amnesia, Anterograde
• Amnesia, Retrograde
• Amnesia, Transient Global
• Korsakoff Syndrome
• Perceptual Disorders
• Agnosia
• Gerstmann Syndrome
• Primary visual agnosia
• Prosopagnosia
• Prosopagnosia, hereditary
• Alice in Wonderland Syndrome
• Allesthesia
• Auditory Perceptual Disorders
• Tune Deafness
• Hallucinations
• Illusions
• Phantom Limb
• Synesthesia
• Psychomotor Disorders
• Aniridia, Partial, with Unilateral Renal Agenesis and Psychomotor Retardation
• Apraxias
• Alien Hand Syndrome
• Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Apraxia
• Apraxia, Ideomotor
• Apraxia, oculomotor, Cogan type
• Early-onset ataxia with oculomotor apraxia and hypoalbuminemia
• Gait Apraxia
• Rolandic Epilepsy, Mental Retardation, And Speech Dyspraxia, Autosomal Dominant
• Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked
• Specific Language Impairment 4
• SPEECH-LANGUAGE DISORDER 1
• Wieacker syndrome
• Bowen-Conradi syndrome
• CHROMOSOME 3pter-p25 DELETION SYNDROME
• C SYNDROME
• De Hauwere Leroy Adriaenssens syndrome
• Developmental Delay, Epilepsy, and Neonatal Diabetes
• Diaminopentanuria
• Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency
• Edinburgh Malformation Syndrome
• Fumaric aciduria
• Genitopatellar Syndrome
• Growth Retardation, Small and Puffy Hands and Feet, and Eczema
• Hypomyelination, Global Cerebral
• Kozlowski Rafinski Klicharska syndrome
• MacDermot Winter syndrome
• Megarbane syndrome
• Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay
• Phosphoglycerate Dehydrogenase Deficiency
• Phosphoserine Aminotransferase Deficiency
• Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
• Psychomotor Agitation
• Akathisia, Drug-Induced
• Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet
• Neurogenic Inflammation
• Neuromuscular Manifestations
• Fasciculation
• Muscle Cramp
• Muscle Hypertonia
• Muscle Hypotonia
• Muscle Weakness
• Muscular Atrophy
• Myokymia
• Myotonia
• Spasm
• Tetany
• Irritable heart
• Orthostatic hypotension
• Idiopathic orthostatic hypotension
• Orthostatic Hypotensive Disorder, Streeten Type
• Post-Exercise Hypotension
• Postural Orthostatic Tachycardia Syndrome
• Syncope, Vasovagal
• Familial neurocardiogenic syncope
• Neurocirculatory Asthenia
• Orthostatic hypotension
• Idiopathic orthostatic hypotension
• Orthostatic Hypotensive Disorder, Streeten Type
• Post-Exercise Hypotension
• Postural Orthostatic Tachycardia Syndrome
• Syncope, Vasovagal
• Familial neurocardiogenic syncope
• Pain
• Abdominal Pain
• Abdomen, Acute
• Pelger-Huet-Like Anomaly and Episodic Fever with Abdominal Pain
• Acute Pain
• Arthralgia
• Shoulder Pain
• Back Pain
• Failed Back Surgery Syndrome
• Low Back Pain
• Breakthrough Pain
• Chest Pain
• Angina Pectoris
• Angina, Stable
• Angina, Unstable
• Angina Pectoris, Variant
• Prinzmetal's variant angina
• Microvascular Angina
• Chronic Pain
• Earache
• Eye Pain
• Facial Pain
• Flank Pain
• Glossalgia
• Headache
• Hyperthermia, Cutaneous, With Headaches And Nausea
• Slit Ventricle Syndrome
• Labor Pain
• Levator syndrome
• Mastodynia
• Metatarsalgia
• Musculoskeletal Pain
• Myalgia
• Pelvic Girdle Pain
• Neck Pain
• Paroxysmal Extreme Pain Disorder
• Neuropathic pain
• Causalgia
• Neuralgia, Postherpetic
• Piriformis Muscle Syndrome
• Hip socket neuropathy
• Pudendal Neuralgia
• Sciatica
• Hip socket neuropathy
• Neuropathy, Painful
• Nociceptive Pain
• Visceral Pain
• Pain, Intractable
• Pain, Postoperative
• Phantom Limb
• Pain, Referred
• Pelvic Pain
• Dysmenorrhea
• Pelvic Girdle Pain
• Piriformis Muscle Syndrome
• Hip socket neuropathy
• Renal Colic
• Paralysis
• Paresis
• Encephalopathy, Spastic Tetraparesis, and Hypogonadism
• Hhhh Syndrome
• Paraparesis
• Paraparesis, Spastic
• Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Apraxia
• Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Unusual Plaques
• Branchial Myoclonus with Spastic Paraparesis and Cerebellar Ataxia
• Gemignani syndrome
• Multiple Exostoses with Spastic Tetraparesis
• Spastic Paresis, Glaucoma, and Mental Retardation
• Psychophysiologic Disorders
• Pupil Disorders
• Anisocoria
• Congenital Corneal Opacities, Cornea Guttata, and Corectopia
• Ectopia Lentis with Ectopia of Pupil
• Ectopia pupillae
• McPherson Robertson Cammarano syndrome
• Microcoria, congenital
• Microphthalmia, Isolated, With Corectopia
• Miosis
• Mydriasis
• Pierson syndrome
• Ptosis, Strabismus, And Ectopic Pupils
• Tonic Pupil
• Reflex, Abnormal
• Bahemuka Brown syndrome
• CAPOS syndrome
• External Ophthalmoplegia, Synergistic Divergence, Jaw Winking, and Oculocutaneous Hypopigmentation
• Hyperekplexia and Epilepsy
• Marcus Gunn phenomenon
• Seizures
• Adams Nance syndrome
• Alcohol Withdrawal Seizures
• Alopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism
• Baraitser Rodeck Garner syndrome
• Cerebroretinal Microangiopathy with Calcifications and Cysts
• Chromosome 15q13.3 Microdeletion Syndrome
• Convulsive Disorder, Familial, with Prenatal or Early Onset
• Copper deficiency, familial benign
• Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly
• Dysmyelination With Jaundice
• EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
• EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12
• EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5
• EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
• Hyper-Beta-Alaninemia
• Hyperleucine-Isoleucinemia
• HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY
• Hyperphosphatemia, Polyuria, and Seizures
• Hypoparathyroidism-retardation-dysmorphism syndrome
• Hypotonia, Seizures, And Precocious Puberty
• Infantile convulsions and paroxysmal choreoathetosis, familial
• Mental retardation, keratoconus, febrile seizures, and sinoatrial block
• Mental Retardation, X-Linked 59
• Methionine Malabsorption Syndrome
• MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY
• MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY
• Microcephaly seizures genital hypoplasia
• Microcephaly seizures mental retardation heart disorders
• Microcephaly sparse hair mental retardation seizures
• Muller Barth Menger syndrome
• PACHYGYRIA WITH MENTAL RETARDATION, SEIZURES, AND ARACHNOID CYSTS
• Partington X-linked mental retardation syndrome
• Perniola Krajewska Carnevale syndrome
• Phosphoglycerate Dehydrogenase Deficiency
• Phosphoserine Aminotransferase Deficiency
• Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
• Qazi Markouizos syndrome
• SeSAME syndrome
• Tranebjaerg Svejgaard syndrome
• Warman Mulliken Hayward syndrome
• X-linked mental retardation Gustavson type
• Sensation Disorders
• Dizziness
• Primary orthostatic tremor
• Hearing Disorders
• Hearing loss
• Abidi X-linked mental retardation syndrome
• Behr syndrome
• Branchial arch syndrome X-linked
• CATSHL syndrome
• Chromosome 6pter-P24 Deletion Syndrome
• Deafness
• Albinism deafness syndrome
• Arthrogryposis multiplex with deafness, inguinal hernias, and early death
• Ayazi syndrome
• Branchiogenic-Deafness Syndrome
• Burn-Mckeown syndrome
• Cardioauditory syndrome of Sanchez Cascos
• Charcot-Marie-Tooth disease and deafness
• Corneal Degeneration, Ribbonlike, with Deafness
• Coxoauricular Syndrome
• Davenport Donlan syndrome
• Deaf-Blind Disorders
• DEAFNESS, AUTOSOMAL DOMINANT 22;DFNA22 DEAFNESS, AUTOSOMAL DOMINANT 22, WITH HYPERTROPHIC CARDIOMYOPATHY,
• DEAFNESS, AUTOSOMAL DOMINANT 27
• DEAFNESS, AUTOSOMAL DOMINANT 33
• Deafness, Autosomal Dominant 4
• DEAFNESS, AUTOSOMAL DOMINANT 50
• DEAFNESS, AUTOSOMAL DOMINANT 51
• Deafness, Autosomal Recessive 18
• DEAFNESS, AUTOSOMAL RECESSIVE 25
• DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT
• DEAFNESS, AUTOSOMAL RECESSIVE 45
• DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
• DEAFNESS, AUTOSOMAL RECESSIVE 74
• DEAFNESS, AUTOSOMAL RECESSIVE 83
• DEAFNESS, AUTOSOMAL RECESSIVE 84A
• DEAFNESS, AUTOSOMAL RECESSIVE 85
• DEAFNESS, AUTOSOMAL RECESSIVE 89
• DEAFNESS, AUTOSOMAL RECESSIVE 91
• Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
• Deafness, Congenital, and Familial Myoclonic Epilepsy
• Deafness, Congenital, and Onychodystrophy, Autosomal Dominant
• Deafness, congenital onychodystrophy, recessive form
• Deafness, Congenital, with Vitiligo and Achalasia
• Deafness hyperuricemia neurologic ataxia
• DEAFNESS, NONSYNDROMIC, MODIFIER 1
• DEAFNESS, Y-LINKED 1
• Dementia, familial Danish
• Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, And Mental Retardation
• Emphysema, Congenital, With Deafness, Penoscrotal Web, And Mental Retardation
• Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness
• Fine-Lubinsky syndrome
• Fountain syndrome
• Herrmann syndrome
• Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness
• Hyperlipoproteinemia, Type II, and Deafness
• HYPERTELORISM, PREAURICULAR SINUS, PUNCTAL PITS, AND DEAFNESS
• Ichthyosiform erythroderma, corneal involvement, deafness
• Johnson neuroectodermal syndrome
• Jones syndrome
• Keratitis, Ichthyosis, and Deafness (KID) Syndrome
• Konigsmark Knox Hussels syndrome
• Lynch Lee Murday syndrome
• Mental retardation-hypotonic facies syndrome, x-linked, 1
• Meyenburg-Altherr-Uehlinger syndrome
• Microcephaly deafness syndrome
• MUCKLE-WELLS SYNDROME
• Myoclonic Epilepsy, Congenital Deafness, Macular Dystrophy, and Psychiatric Disorders
• Myoclonus, Cerebellar Ataxia, and Deafness
• Nasodigitoacoustic syndrome
• Nathalie syndrome
• Nephrosis deafness urinary tract digital malformation
• Noninsulin-dependent diabetes mellitus with deafness
• Nonsyndromic Deafness
• Opticocochleodentate Degeneration
• PERRAULT SYNDROME 3
• Ramos Arroyo Clark syndrome
• Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
• Richards-Rundle syndrome
• Schimke X-linked mental retardation syndrome
• Schlegelberger Grote syndrome
• Secretory Diarrhea, Myopathy, and Deafness
• Spastic paraplegia 24
• Temtamy preaxial brachydactyly syndrome
• Tibia, Absence of, with Congenital Deafness
• Tietz syndrome
• Wells Jankovic syndrome
• Wright Dyck syndrome
• X-linked mental retardation Gustavson type
• Yemenite deaf-blind hypopigmentation syndrome
• Deafness, Autosomal Dominant, Due To Mutation In Myo1a
• Deafness, Autosomal Recessive 36, Without Vestibular Involvement
• Deafness, Congenital Heart Defects, and Posterior Embryotoxon
• Deafness-Craniofacial Syndrome
• Deafness, Unilateral, With Delayed Endolymphatic Hydrops
• Deafness with Anhidrotic Ectodermal Dysplasia
• Hearing Loss, Bilateral
• HEARING LOSS, CISPLATIN-INDUCED, SUSCEPTIBILITY TO
• Hearing Loss, Conductive
• Hearing Loss, Functional
• Hearing Loss, High-Frequency
• Hearing Loss, Mixed Conductive-Sensorineural
• Hearing Loss, Sensorineural
• Hearing Loss, Sudden
• Hearing Loss, Unilateral
• Iris dysplasia hypertelorism deafness
• Lacrimoauriculodentodigital syndrome
• Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance
• Microtia, Hearing Impairment, And Cleft Palate
• Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay
• Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Dominant
• Reardon Wilson Cavanagh syndrome
• Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
• Hyperacusis
• Ossicular Malformations, familial
• Tinnitus
• Episodic Ataxia, Type 3
• Olfaction Disorders
• Congenital anosmia
• Johnson neuroectodermal syndrome
• Musk, Inability to Smell
• Neuropathy, Hereditary Sensory and Autonomic, Adult-Onset, with Anosmia
• Posterior column ataxia
• Somatosensory Disorders
• Taste Disorders
• Vision Disorders
• Sleep Wake Disorders
• Autosomal Dominant Lateral Temporal Lobe Epilepsy
• Dyssomnias
• Sleep Deprivation
• Sleep Disorders, Circadian Rhythm
• Advanced Sleep-Phase Syndrome, Familial
• Jet Lag Syndrome
• Sleep Disorders, Intrinsic
• Hypersomnia
• Hyper-Beta-Alaninemia
• Hypersomnolence, Idiopathic
• Kleine-Levin Syndrome
• Narcolepsy
• Cataplexy
• Cerebellar Ataxia, Deafness, and Narcolepsy
• Disseminated Sclerosis with Narcolepsy
• Irresistible sleepiness, cataplexy and onset of sleep in desynchronized phase
• Narcolepsy 1
• Nocturnal Myoclonus Syndrome
• Restless legs syndrome
• Restless legs syndrome 1
• Restless legs syndrome 2
• Sleep Apnea Syndromes
• Glaucoma and Sleep Apnea
• Sleep Apnea, Central
• Congenital central hypoventilation syndrome
• Obstructive sleep apnea
• Obesity Hypoventilation Syndrome
• Insomnia
• Insomnia, Fatal Familial
• Parasomnias
• Nocturnal Myoclonus Syndrome
• Nocturnal Paroxysmal Dystonia
• REM Sleep Parasomnias
• REM Sleep Behavior Disorder
• Sleep Paralysis
• Restless legs syndrome
• Restless legs syndrome 1
• Restless legs syndrome 2
• Sleep Arousal Disorders
• Night Terrors
• Somnambulism
• Epilepsy, Nocturnal Frontal Lobe, Type 4
• Sleep Bruxism
• Faciomandibular myoclonus, nocturnal
• Sleep-Wake Transition Disorders
• Sleep Deprivation
• Susac Syndrome
• Urinary Bladder, Neurogenic
• Vertigo
• Benign Paroxysmal Positional Vertigo
• Episodic Ataxia, Type 3
• Vertigo, Benign Recurrent
• Vertigo, Benign Recurrent, 1
• Vertigo, Benign Recurrent, 2
• Voice Disorders
• Aphonia
• Dysphonia
• Laryngeal Abductor Paralysis with Cerebellar Ataxia and Motor Neuropathy
• Hoarseness
• Asrar Facharzt Haque syndrome
• Lipoid Proteinosis of Urbach and Wiethe
• Dystonia musculorum deformans 4
• Oral Manifestations
• Oral Hemorrhage
• Gingival Hemorrhage
• Bazopoulou Kyrkanidou syndrome
• Polydipsia
• Polydipsia, Psychogenic
• Prodromal Symptoms
• Pseudophakia
• Renal Colic
• Reticulocytosis
• Signs and Symptoms, Digestive
• Abdominal Pain
• Abdomen, Acute
• Pelger-Huet-Like Anomaly and Episodic Fever with Abdominal Pain
• Aerophagy
• Anorexia
• FACES syndrome
• Dyspepsia
• Constipation
• Anal sphincter dysplasia
• Fg Syndrome 5
• Opitz-Kaveggia syndrome
• Diarrhea
• Bile Acid Malabsorption, Primary
• Congenital chloride diarrhea
• Diarrhea 3, Secretory Sodium, Congenital
• Diarrhea 3, Secretory Sodium, Congenital, Syndromic
• Diarrhea 4, Malabsorptive, Congenital
• Diarrhea, Chronic, with Villous Atrophy
• Diarrhea, Glucose-Stimulated Secretory, with Common Variable Immunodeficiency
• Diarrhea, Infantile
• Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome
• Satoyoshi syndrome
• Secretory Diarrhea, Myopathy, and Deafness
• Trehalase Deficiency
• Vascular Hyalinosis
• Encopresis
• Anal sphincter dysplasia
• Vomiting
• Cyclic Vomiting Syndrome-Plus
• Cyclic Vomiting Syndrome with Neuromuscular Disease
• Familial cyclic vomiting syndrome
• Hematemesis
• Vomiting, Anticipatory
• Morning Sickness
• Postoperative Nausea and Vomiting
• Eructation
• Flatulence
• Gagging
• Halitosis
• Heartburn
• Hiccup
• Hyperphagia
• Nausea
• Signs and Symptoms, Respiratory
• Anoxia
• Fetal Hypoxia
• Apnea
• Butyrylcholinesterase deficiency
• Congenital myasthenic syndrome with episodic apnea
• Sleep Apnea Syndromes
• Glaucoma and Sleep Apnea
• Sleep Apnea, Central
• Congenital central hypoventilation syndrome
• Obstructive sleep apnea
• Obesity Hypoventilation Syndrome
• Cheyne-Stokes Respiration
• Cough
• Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux
• Dyspnea
• Dyspnea, Paroxysmal
• Hemoptysis
• Hoarseness
• Asrar Facharzt Haque syndrome
• Lipoid Proteinosis of Urbach and Wiethe
• Hypercapnia
• Hyperoxia
• Hyperventilation
• Alkalosis, Respiratory
• Pitt-Hopkins syndrome
• Hypocapnia
• Hypoventilation
• Congenital central hypoventilation syndrome
• Obesity Hypoventilation Syndrome
• Perry Syndrome
• Infantile Apparent Life-Threatening Event
• Mouth Breathing
• Respiratory Sounds
• Snoring
• Stridor, Congenital
• Sneezing
• Autosomal dominant compelling helio ophthalmic outburst syndrome
• Gastric Sneezing
• Tachypnea
• Transient Tachypnea of the Newborn
• Skin Manifestations
• Cafe-au-Lait Spots
• Cafe au lait spots, multiple
• Gastrocutaneous syndrome
• Legius syndrome
• WATSON SYNDROME
• Ecchymosis
• Jaundice
• Deal Barratt Dillon syndrome
• Dysmyelination With Jaundice
• Jaundice, Obstructive
• Anemia, hereditary spherocytic hemolytic
• Jaundice, Familial Obstructive, of Infancy
• Lutz Richner Landolt syndrome
• Livedo Reticularis
• Aortic Aneurysm, Familial Thoracic 6
• Necrolytic Migratory Erythema
• Pallor
• Pruritus
• Purpura
• Striae Distensae
• Urological Manifestations
• Hypercalciuria
• Hypercalciuric Hypocalcemia, Familial
• Hypercalciuria, Absorptive, 1
• Hypercalciuria, Absorptive, 2
• Hypercalciuria, childhood idiopathic
• Hypomagnesemia primary
• Hypophosphatemic Rickets with Hypercalciuria, Hereditary
• Lower Urinary Tract Symptoms
• Dysuria
• Prostatism
• Nocturia
• Urinary Bladder, Overactive
• Urinary Incontinence
• Urinary Incontinence, Stress
• Urinary Incontinence, Urge
• Oliguria
• Polyuria
• Hyperphosphatemia, Polyuria, and Seizures
• Proteinuria
• Albuminuria
• Donnai-Barrow syndrome
• Hemoglobinuria
• CD59 Deficiency
• Urinoma
• Virilism
• Achard-Thiers syndrome
• Hirsutism
• Acanthosis nigricans muscle cramps acral enlargement
• Barber Say syndrome
• Cortisone reductase deficiency
• Spondyloepimetaphyseal dysplasia, Genevieve type
• Tel Hashomer camptodactyly syndrome
• Wiedemann Oldigs Oppermann syndrome