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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Aortic Stenosis, Supravalvular (D021921)
Parent Node: Chromosome Disorders (D025063)
Parent Node: Intellectual Disability (D008607)
..Starting node ..Williams Syndrome (D018980)
Child Nodes:
........Williams-Beuren Region Duplication Syndrome (C565723)
Sister Nodes:
..15q24 Microdeletion (C579849)
..16p11.2 Deletion Syndrome (C579850)
..Absent Eyebrows and Eyelashes with Mental Retardation (C563111)
..Acrodysostosis (C538179)
..Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations (C563429)
..AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency (C563876)
..Akesson syndrome (C535610)
..Al Gazali Aziz Salem syndrome (C535613)
..Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus (C565968)
..Alopecia contractures dwarfism mental retardation (C537051)
..Alopecia epilepsy oligophrenia syndrome of Moynahan (C537052)
..Alopecia, epilepsy, pyorrhea, mental subnormality (C537057)
..Alopecia, Neurologic Defects, and Endocrinopathy Syndrome (C567425)
..Alopecia-Mental Retardation Syndrome 1 (C565965)
..Alopecia-Mental Retardation Syndrome 2 (C563668)
..ALOPECIA-MENTAL RETARDATION SYNDROME 3 (OMIM:613930)
..Alopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism (C563370)
..Alpha-Thalassemia Mental Retardation Syndrome, Deletion-Type (C563050)
..Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis (C564570)
..Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis (C565960)
..Amyloidosis of Gingiva and Conjunctiva, with Mental Retardation (C565958)
..Amyotrophic Dystonic Paraplegia (C566292)
..Anemia, Congenital Hypoplastic, with Multiple Congenital Anomalies/Mental Retardation Syndrome (C565796)
..Aniridia cerebellar ataxia mental deficiency (C536370)
..Ansell Bywaters Elderking syndrome (C537773)
..Aortic arch anomaly with peculiar facies and mental retardation (C537785)
..Aphalangia, Partial, with Syndactyly and Duplication of Metatarsal IV (C563942)
..Arachnodactyly ataxia cataract aminoaciduria mental retardation (C537424)
..Arginine:Glycine Amidinotransferase Deficiency (C567192)
..Arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies (C535385)
..Arthrogryposis, Distal, with Mental Retardation and Characteristic Facies (C565940)
..Aughton syndrome (C538269)
..Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation (C565923)
..Baraitser Rodeck Garner syndrome (C537906)
..Battaglia Neri syndrome (C537662)
..BEAULIEU-BOYCOTT-INNES SYNDROME (OMIM:613680)
..Behr syndrome (C537669)
..Bellini Chiumello Rimoldi syndrome (C535652)
..Biemond Syndrome II (C565902)
..Biemond syndrome type 2 (C535439)
..Birk-Barel Mental Retardation Dysmorphism Syndrome (C567357)
..Blepharophimosis syndrome Ohdo type (C536232)
..Blepharophimosis with Facial and Genital Anomalies and Mental Retardation (C565797)
..Bohring syndrome (C537419)
..Boudhina Yedes Khiari syndrome (C537939)
..BRACHYDACTYLY-MENTAL RETARDATION SYNDROME (OMIM:600430)
..Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear/Eye Anomalies, Cleft Palate/Cryptorchidism, And (C564519)
..Brunner Syndrome (C563156)
..Bullous Dystrophy, Hereditary Macular Type (C563065)
..CAHMR syndrome (C537959)
..Camera Marugo Cohen syndrome (C537964)
..Cantalamessa Baldini Ambrosi syndrome (C537981)
..Cantu Sanchez-Corona Fragoso syndrome (C535571)
..Cartwright Nelson Fryns syndrome (C535917)
..Cataract, Congenital, with Mental Impairment and Dentate Gyrus Atrophy (C564353)
..Cataracts, ataxia, short stature, and mental retardation (C535345)
..Cataracts, Congenital, with Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, and Mental Retardation (C563390)
..Cephalin Lipidosis (C565872)
..Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2 (C567656)
..Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 (C567690)
..Cerebral Cavernous Malformations 2 (C566394)
..Cerebral Cavernous Malformations 3 (C566393)
..Cerebrocostomandibular Syndrome (C562538)
..Cerebrofaciothoracic Dysplasia (C565862)
..Cerebrooculofacioskeletal Syndrome 2 (C565185)
..Cerebrooculofacioskeletal Syndrome 4 (C565184)
..Cerebrooculonasal Syndrome (C565313)
..Choroid plexus calcification with mental retardation (C535357)
..CHROMOSOME 13q14 DELETION SYNDROME (OMIM:613884)
..Chromosome 15q13.3 Microdeletion Syndrome (C567439)
..Chromosome 15q26-Qter Deletion Syndrome (C567232)
..CHROMOSOME 17p13.1 DELETION SYNDROME (OMIM:613776)
..Chromosome 17q21.31 Deletion Syndrome (C566476)
..Chromosome 18 Pericentric Inversion (C563734)
..Chromosome 1q21.1 Duplication Syndrome (C567290)
..Chromosome 1q43-Q44 Deletion Syndrome (C567346)
..Chromosome 2q31.2 Deletion Syndrome (C567344)
..Chromosome 2q32-Q33 Deletion Syndrome (C567350)
..Chromosome 3q29 Deletion Syndrome (C567184)
..CHROMOSOME 7q11.23 DELETION SYNDROME, DISTAL, 1.2-MB (OMIM:613729)
..CHROMOSOME 8q21.11 DELETION SYNDROME (OMIM:614230)
..Chromosome Xq28 Duplication Syndrome (C567580)
..Chudley-Rozdilsky syndrome (C535458)
..Cleft Palate, Isolated, And Mental Retardation (C566991)
..Coffin syndrome 1 (C536435)
..Coffin-Siris syndrome (C536436)
..Cohen syndrome (C536438)
..Coloboma, cleft lip/palate and mental retardation syndrome (C535971)
..Coloboma, Uveal, with Cleft Lip and Palate and Mental Retardation (C565173)
..Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome (C566623)
..Convulsive Disorder, Familial, with Prenatal or Early Onset (C565678)
..Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia (C564509)
..Cortical Blindness, Retardation, and Postaxial Polydactyly (C565674)
..Craniofaciofrontodigital Syndrome (C567298)
..Craniosynostosis Mental Retardation Clefting Syndrome (C565663)
..Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig (C565664)
..Cree Mental Retardation Syndrome (C564654)
..Cri-du-Chat Syndrome (D003410) 6
..Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly (C563840)
..Cubitus Valgus with Mental Retardation and Unusual Facies (C564510)
..Curatolo Cilio Pessagno syndrome (C536701)
..Cutis Verticis Gyrata and Mental Deficiency (C565661)
..Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Subnormal Mentality (C565658)
..Davis Lafer syndrome (C535989)
..De Barsy syndrome (C535990)
..De Lange Syndrome (D003635) 1
..De Sanctis-Cacchione syndrome (C535992)
..Deafness, Cochlear, with Myopia and Intellectual Impairment (C565645)
..Deafness, congenital onychodystrophy, recessive form (C538204)
..Devriendt syndrome (C535947)
..Diabetes Insipidus, Nephrogenic, with Mental Retardation and Intracerebral Calcification (C565632)
..Dicarboxylicaminoaciduria (C536171)
..Digitorenocerebral Syndrome (C563052)
..Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, And Mental Retardation (C566408)
..Down Syndrome (D004314) 6
..Dubowitz syndrome (C535718)
..Duker Weiss Siber syndrome (C535719)
..Duplication 15q11-q13 Syndrome (C557830)
..Dwarfism, Low-Birth-Weight Type, with Unresponsiveness to Growth Hormone (C565615)
..Dyggve-Melchior-Clausen syndrome (C535726)
..Dysequilibrium syndrome (C535731)
..Dysmyelination With Jaundice (C565610)
..Ectodermal dysplasia mental retardation syndactyly (C538018)
..Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Agenesis of the Corpus Callosum (C565605)
..Elliott Ludman Teebi syndrome (C536204)
..Emanuel syndrome (C535733)
..Emphysema, Congenital, With Deafness, Penoscrotal Web, And Mental Retardation (C566519)
..Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration (C565594)
..Epidermolysis bullosa, late-onset localized junctional, with mental retardation (C535492)
..Epilepsy telangiectasia (C535497)
..Epilepsy, Female-Restricted, with Mental Retardation (C564715)
..Epilepsy, Photogenic, with Spastic Diplegia and Mental Retardation (C565587)
..Facial Abnormalities, Kyphoscoliosis, and Mental Retardation (C565580)
..Faciocardiomelic Syndrome (C567176)
..Fallot complex with severe mental and growth retardation (C536608)
..Feingold Trainer syndrome (C536179)
..Fg Syndrome 5 (C564480)
..Fibromatosis, Gingival, with Hypertrichosis and Mental Retardation (C565331)
..Filippi syndrome (C538152)
..Fine-Lubinsky syndrome (C537933)
..Fitzsimmons Walson Mellor syndrome (C537937)
..Fitzsimmons-McLachlan-Gilbert syndrome (C537058)
..Fountain syndrome (C537270)
..FRONTONASAL DYSPLASIA 3 (OMIM:613456)
..Fryns-Aftimos Syndrome (C565258)
..Garret Tripp syndrome (C535646)
..Genitopatellar Syndrome (C565255)
..Goniodysgenesis-Mental Retardation-Short Stature Syndrome (C564214)
..Growth and Developmental Retardation, Ocular Ptosis, Cardiac Defect, and Anal Atresia (C565755)
..Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate (C537405)
..Growth Deficiency and Mental Retardation with Facial Dysmorphism (C565358)
..Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy (C564264)
..Growth mental deficiency syndrome of Myhre (C537620)
..Gurrieri Sammito Bellussi syndrome (C537625)
..Hair defect with photosensitivity and mental retardation (C537628)
..Hall Riggs mental retardation syndrome (C535623)
..Harrod Doman Keele syndrome (C535635)
..Haspeslagh Fryns Muelenaere syndrome (C535844)
..Histidinemia (C538320)
..Hittner Hirsch Kreh syndrome (C538323)
..Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate (C564484)
..Hooft disease (C535329)
..Hordnes Engebretsen Knudtson syndrome (C536067)
..Hoyeraal Hreidarsson syndrome (C536068)
..Hunter-McAlpine syndrome (C536072)
..Hydronephrosis, Congenital, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation (C565736)
..Hydroxylysinuria (C565502)
..Hyperleucine-Isoleucinemia (C562674)
..Hyperlysinemia Due To Defect In Lysine Transport Into Mitochondria (C565499)
..Hyperphosphatasia with Mental Retardation (C565495) 2
..Hypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility (C566988)
..Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features (C538391)
..Hyperuricemia, Infantile, with Abnormal Behavior and Normal Hypoxanthine Guanine Phosphoribosyltransferase (C565489)
..Hypogonadism with Low-Grade Mental Deficiency and Microcephaly (C565482)
..Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies (C564406)
..Hypoparathyroidism-retardation-dysmorphism syndrome (C537157)
..Hypospadias-Mental Retardation Syndrome (C563067)
..Hypotonia-Cystinuria Syndrome (C564710)
..Ichthyosis and male hypogonadism (C537365)
..Ichthyosis, mental retardation, dwarfism, and renal impairment (C536274)
..Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin (C563402)
..Indolylacroyl Glycinuria with Mental Retardation (C565466)
..Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation (C565462)
..Jagell Holmgren Hofer syndrome (C537364)
..Johanson Blizzard syndrome (C535880)
..Joubert Syndrome 7 (C566916)
..Joubert Syndrome 9 (C567364)
..Kahrizi Syndrome (C567196)
..Kaler Garrity Stern syndrome (C537706)
..Kapur Toriello syndrome (C537008)
..Karandikar Maria Kamble syndrome (C537009)
..Katsantoni Papadakou Lagoyanni syndrome (C537012)
..Kaufman oculocerebrofacial syndrome (C537013)
..KBG syndrome (C537015)
..Kleefstra Syndrome (C563043)
..Koone Rizzo Elias syndrome (C537023)
..Kosztolanyi syndrome (C537024)
..Kozlowski Ouvrier syndrome (C537508)
..Kozlowski Rafinski Klicharska syndrome (C537509)
..Kozlowski-Krajewska syndrome (C537615)
..Kuzniecky syndrome (C538091)
..Lambert syndrome (C538396)
..Lenz Majewski hyperostotic dwarfism (C537115)
..Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis (C565440)
..Light Fixation Seizure Syndrome (C566367)
..Limb Defects, Distal Transverse, with Mental Retardation and Spasticity (C565438)
..Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones (C564283)
..Lissencephaly 3 (C566908)
..Lowry Maclean syndrome (C537037)
..Lowry Wood syndrome (C537038)
..Lubani Al Saleh Teebi syndrome (C537039)
..Lynch Lee Murday syndrome (C537713)
..Macrogyria, pseudobulbar palsy and mental retardation (C537722)
..Macrosomia obesity macrocephaly ocular abnormalities (C535812)
..Male pseudohermaphroditism/mental retardation syndrome, Verloes type (C535693)
..Mandibulofacial Dysostosis with Mental Deficiency (C565420)
..Marfanoid Mental Retardation Syndrome, Autosomal (C565410)
..Marinesco-Sjogren-like syndrome (MSLS) (C535913)
..Martin-Probst Deafness-Mental Retardation Syndrome (C564495)
..Martsolf syndrome (C536028)
..MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome (C536029)
..McDonough syndrome (C538158)
..Mental and Growth Retardation with Amblyopia (C563591)
..Mental Retardation associated with Psoriasis (C564107)
..Mental retardation Mietens Weber type (C537444)
..Mental retardation Smith Fineman Myers type (C537445)
..Mental retardation spasticity ectrodactyly (C537446)
..Mental retardation syndrome, Belgian type (C537447)
..MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES (OMIM:613670)
..Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature (C563810)
..Mental Retardation with Spastic Paraplegia (C564099)
..Mental retardation Wolff type (C537448)
..MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS (OMIM:613671)
..Mental Retardation, Autosomal Dominant 1 (C566947)
..MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 (OMIM:613443)
..Mental Retardation, Autosomal Dominant 3 (C567241)
..Mental Retardation, Autosomal Dominant 4 (C567240)
..Mental Retardation, Autosomal Dominant 5 (C567234)
..Mental Retardation, Autosomal Recessive 1 (C565406)
..Mental Retardation, Autosomal Recessive 10 (C567013)
..Mental Retardation, Autosomal Recessive 11 (C567012)
..Mental Retardation, Autosomal Recessive 12 (C567019)
..Mental Retardation, Autosomal Recessive 13 (C567714)
..MENTAL RETARDATION, AUTOSOMAL RECESSIVE 16 (OMIM:614208)
..Mental Retardation, Autosomal Recessive 2 (C564404)
..Mental Retardation, Autosomal Recessive 3 (C563929)
..Mental Retardation, Autosomal Recessive 4 (C567008)
..Mental Retardation, Autosomal Recessive 5 (C567018)
..Mental Retardation, Autosomal Recessive 6 (C567017)
..Mental Retardation, Autosomal Recessive 7 (C567016)
..Mental Retardation, Autosomal Recessive 8 (C567015)
..Mental Retardation, Autosomal Recessive 9 (C567014)
..Mental Retardation, Buenos Aires Type (C563095)
..Mental Retardation, Fra12a Type (C566980)
..Mental Retardation, Joint Hypermobility, And Skin Laxity, With Or Without Metabolic Abnormalities (C567209)
..Mental retardation, keratoconus, febrile seizures, and sinoatrial block (C537452)
..Mental retardation, macrocephaly, short stature and craniofacial dysmorphism (C537453)
..Mental Retardation, Microcephaly, Epilepsy, And Coarse Face (C563342)
..Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism (C565246)
..Mental Retardation, Severe, With Spasticity And Pigmentary Tapetoretinal Degeneration (C566429)
..Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations (C565248)
..Mental Retardation, Skeletal Dysplasia, and Abducens Palsy (C564101)
..Mental Retardation, X-Linked (D038901) 134
..Mental Retardation, X-Linked, Syndromic 12 (C564106)
..Mental Retardation, X-Linked, Syndromic, Christianson Type (C567484)
..Mental Retardation, X-Linked, Syndromic, Turner Type (C567476)
..Mental Retardation, X-Linked, Syndromic, Zdhhc9-Related (C567586)
..Mental Retardation, X-Linked, With Panhypopituitarism (C567485)
..Mental Retardation, X-Linked, Znf711-Related (C567583)
..Metaphyseal Dysostosis, Mental Retardation, and Conductive Deafness (C565396)
..Methionine Malabsorption Syndrome (C562682)
..Microcephalic primordial dwarfism Toriello type (C537321)
..Microcephaly cervical spine fusion anomalies (C537325)
..Microcephaly deafness syndrome (C537326)
..Microcephaly seizures mental retardation heart disorders (C537544)
..Microcephaly sparse hair mental retardation seizures (C537545)
..Microcephaly with Mental Retardation and Digital Anomalies (C567101)
..Microcephaly, corpus callosum dysgenesis and cleft lip-palate (C537547)
..Microcephaly, Facial Abnormalities, Micromelia, and Mental Retardation (C566361)
..Microcephaly, Macrotia, And Mental Retardation (C566525)
..Microphthalmia and mental deficiency (C537462)
..Mirhosseini-Holmes-Walton syndrome (C538367)
..Mohr-Tranebjaerg syndrome (C535808)
..Mollica Pavone Antener syndrome (C535809)
..MOMES Syndrome (C564660)
..Morillo-Cucci Passarge syndrome (C536983)
..MORM syndrome (C536984)
..Mowat-Wilson syndrome (C536990)
..Muscular Dystrophy, Congenital, associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation (C565506)
..Muscular Dystrophy, Congenital, plus Mental Retardation (C565505)
..Muscular Dystrophy, Congenital, Type 1D (C563844)
..MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 (OMIM:613155)
..MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 (OMIM:613156)
..MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3 (OMIM:613151)
..MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6 (OMIM:608840)
..Myotonia with Skeletal Abnormalities and Mental Retardation (C564967)
..N syndrome (C536108)
..Nakamura Osame syndrome (C538335)
..Neuhauser syndrome (C536143)
..Neurofaciodigitorenal syndrome (C537388)
..Neurologic Disease, Infantile Multisystem, with Osseous Fragility (C564954)
..NF1 Microdeletion Syndrome (C563524)
..NF1 Microduplication Syndrome (C567173)
..Nicolaides Baraitser syndrome (C536116)
..Oculodigitoesophagoduodenal syndrome (C537734)
..Oliver Syndrome (C564931)
..Oliver-McFarlane syndrome (C536554)
..Onychotrichodysplasia and neutropenia (C537752)
..Ophthalmoplegia, Progressive, with Scrotal Tongue and Mental Deficiency (C563498)
..Opitz trigonocephaly syndrome (C537418)
..Osteolysis syndrome recessive (C536052)
..PACHYGYRIA WITH MENTAL RETARDATION, SEIZURES, AND ARACHNOID CYSTS (OMIM:600176)
..Palant cleft palate syndrome (C538102)
..Pallister W syndrome (C538106)
..Parastremmatic dwarfism (C537172)
..Parkinsonism, early onset with mental retardation (C537179)
..Pashayan syndrome (C536303)
..Patella hypoplasia mental retardation (C536308)
..Pavone Fiumara Rizzo syndrome (C536313)
..Perisylvian syndrome (C536658)
..Perniola Krajewska Carnevale syndrome (C536660)
..Pfeiffer Kapferer syndrome (C537887)
..Pfeiffer Mayer syndrome (C537888)
..Pfeiffer Tietze Welte syndrome (C537891)
..Pilotto syndrome (C537400)
..Pitt-Hopkins syndrome (C537403)
..Piussan Lenaerts Mathieu syndrome (C537511)
..Prader-Willi Syndrome (D011218) 2
..Primrose syndrome (C536420)
..Prolonged Bleeding Time, Brachydactyly, and Mental Retardation (C564207)
..Proud Syndrome (C563110)
..Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness (C562894)
..Pseudoaminopterin syndrome (C535823)
..Pseudouridinuria and Mental Defect (C564864)
..Pterygium colli mental retardation digital anomalies (C535831)
..Qazi Markouizos syndrome (C536259)
..Radioulnar synostosis retinal pigment abnormalities (C536270)
..Ramon Syndrome (C535285)
..Ramos Arroyo Clark syndrome (C535286)
..Reardon Wilson Cavanagh syndrome (C535295)
..Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation (C567038)
..Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism (C564841)
..Richards-Rundle syndrome (C535674)
..Robin Sequence with Distinctive Facial Appearance and Brachydactyly (C563880)
..Rolandic Epilepsy, Mental Retardation, And Speech Dyspraxia, Autosomal Dominant (C563392)
..Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked (C564467)
..Rubinstein-Taybi Syndrome (D012415) 2
..Rud Syndrome (C535878)
..Ruzicka Goerz Anton syndrome (C537192)
..Sammartino De Crecchio Syndrome (C537229)
..Sao Paulo MCA/MR Syndrome (C563119)
..Scaphocephaly, Maxillary Retrusion, And Mental Retardation (C566511)
..SCARF syndrome (C536625)
..Schinzel-Giedion syndrome (C536632)
..Schofer Beetz Bohl syndrome (C535949)
..Scholte syndrome (C536638)
..Schrander-Stumpel Theunissen Hulsmans syndrome (C536639)
..Sclerosing bone dysplasia mental retardation (C537523)
..Scott Bryant Graham syndrome (C537528)
..Seckel Syndrome 3 (C563881)
..SECKEL SYNDROME 4 (OMIM:613676)
..Seemanova Lesny syndrome (C537536)
..SeSAME syndrome (C557674)
..Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, And Atypical Clefting (C566989)
..Simpson-Golabi-Behmel syndrome (C537340)
..Singh Chhaparwal Dhanda syndrome (C537341)
..Skeletal Defects, Genital Hypoplasia, And Mental Retardation (C567306)
..Sketetal dysplasia coarse facies mental retardation (C536671)
..Spastic Ataxia (C564815)
..Spastic diplegia infantile type (C537481)
..Spastic paraplegia 14, autosomal recessive (C537486)
..Spastic Paraplegia 18, Autosomal Recessive (C567628)
..Spastic Paraplegia 32, Autosomal Recessive (C566983)
..Spastic paraplegia epilepsy mental retardation (C536869)
..Spastic Paraplegia, Ataxia, And Mental Retardation (C564378)
..Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy (C566682)
..Spastic Paresis, Glaucoma, and Mental Retardation (C564809)
..Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation (C564808)
..Spinal Muscular Atrophy with Mental Retardation (C564807)
..Spinal Muscular Atrophy with Microcephaly and Mental Subnormality (C564806)
..Spondyloepimetaphyseal dysplasia, Genevieve type (C535785)
..Spondyloepiphyseal Dysplasia Tarda with Mental Retardation (C564796)
..Spondyloepiphyseal Dysplasia With Coronal Craniosynostosis, Cataracts, Cleft Palate, And Mental Retardation (C566515)
..Stevenson-Carey Syndrome (C567446)
..Sucrosuria, Hiatus Hernia and Mental Retardation (C564792)
..SUPERNUMERARY DER(22)t(8 (OMIM:613700)
..Tamari Goodman syndrome (C536896)
..Temple-Baraitser Syndrome (C567516)
..Temtamy preaxial brachydactyly syndrome (C536958)
..Tetrasomy X (C536502)
..Tonoki syndrome (C536967)
..Trichodental syndrome (C536551)
..TRICHOTHIODYSTROPHY, PHOTOSENSITIVE;TTDP ICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTH (OMIM:601675)
..Tryptophanuria With Dwarfism (C562658)
..Tsukahara Syndrome (C566376)
..Ulna hypoplasia with mental retardation (C536934)
..Ulnar Hypoplasia with Mental Retardation (C564757)
..Upton Young syndrome (C536473)
..Van Bogaert-Hozay syndrome (C536526)
..Van Den Bosch Syndrome (C563129)
..Van Maldergem Wetzburger Verloes syndrome (C536530)
..Vasquez Hurst Sotos syndrome (C536533)
..Verloes Gillerot Fryns syndrome (C536539)
..Viljoen Kallis Voges syndrome (C536349)
..Vitiligo, Progressive, with Mental Retardation and Urethral Duplication (C564739)
..Volcke Soekarman syndrome (C537718)
..WAGR Syndrome (D017624) 2
..Walker Dyson syndrome (C536568)
..Warburg Sjo Fledelius syndrome (C536681)
..Warburton Anyane Yeboa syndrome (C536682)
..Wiedemann Grosse Dibbern syndrome (C536704)
..Wiedemann Oldigs Oppermann syndrome (C536705)
..Williams Syndrome (D018980) 1
..Winship Viljoen Leary syndrome (C536711)
..Woodhouse Sakati syndrome (C536742)
..Worster Drought syndrome (C536747)
..Yorifuji Okuno syndrome (C536714)
..Young Hughes syndrome (C536715)
..Young Simpson syndrome (C536717)
..Zazam Sheriff Phillips syndrome (C536723)
..Zechi-Ceide Syndrome (C567865)
..Zerres Rietschel Majewski syndrome (C536724)
..Zlotogora-Ogur syndrome (C536726)
..Zunich neuroectodermal syndrome (C536729)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

11755

Name:

Williams Syndrome

Definition:

A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects both sexes, with onset at birth or in early infancy.

Alternative IDs:

OMIM:194050

ParentIDs:

MESH:D008607|MESH:D021921|MESH:D025063

TreeNumbers:

C10.597.606.643.970 |C14.280.484.150.535.960 |C16.131.260.970 |C16.320.180.970

Synonyms:

Slim Mappings:

Cardiovascular disease|Congenital abnormality|Genetic disease (inborn)|Nervous system disease

Reference:

MedGen: D018980
MeSH: D018980
OMIM: 194050;

Genes: AF8T;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0100000	Early onset of sexual maturation	HP:0040284
3	HP:0000539	Abnormality of refraction	HP:0040283
4	HP:0000646	Amblyopia	HP:0040283
5	HP:0000739	Anxiety	HP:0040284
6	HP:0007099	Arnold-Chiari type I malformation	HP:0040284
7	HP:0001631	Atrial septal defect	HP:0040283
8	HP:0007018	Attention deficit hyperactivity disorder	HP:0040282
9	HP:0001647	Bicuspid aortic valve
10	HP:0000015	Bladder diverticulum	HP:0040282
11	HP:0000581	Blepharophimosis	HP:0040282
12	HP:0000635	Blue irides	HP:0040282
13	HP:0000455	Broad nasal tip	HP:0040282
14	HP:0002608	Celiac disease	HP:0040283
15	HP:0001321	Cerebellar hypoplasia	HP:0040284
16	HP:0012450	Chronic constipation
17	HP:0004209	Clinodactyly of the 5th finger	HP:0040283
18	HP:0002253	Colonic diverticula	HP:0040284
19	HP:0002019	Constipation	HP:0040282
20	HP:0005145	Coronary artery stenosis	HP:0040282
21	HP:0000973	Cutis laxa	HP:0040282
22	HP:0000689	Dental malocclusion	HP:0040282
23	HP:0005280	Depressed nasal bridge	HP:0040282
24	HP:0000819	Diabetes mellitus	HP:0040284
25	HP:0200021	Down-sloping shoulders	HP:0040282
26	HP:0000805	Enuresis
27	HP:0000286	Epicanthus	HP:0040282
28	HP:0001531	Failure to thrive in infancy	HP:0040284
29	HP:0008872	Feeding difficulties in infancy	HP:0040282
30	HP:0001371	Flexion contracture	HP:0040282
31	HP:0000293	Full cheeks	HP:0040282
32	HP:0002141	Gait imbalance	HP:0040282
33	HP:0002020	Gastroesophageal reflux	HP:0040282
34	HP:0001290	Generalized hypotonia
35	HP:0001822	Hallux valgus	HP:0040282
36	HP:0001609	Hoarse voice	HP:0040282
37	HP:0010780	Hyperacusis	HP:0040282
38	HP:0003072	Hypercalcemia	HP:0040284
39	HP:0002150	Hypercalciuria	HP:0040284
40	HP:0001347	Hyperreflexia	HP:0040282
41	HP:0000668	Hypodontia	HP:0040282
42	HP:0000601	Hypotelorism	HP:0040283
43	HP:0000821	Hypothyroidism	HP:0040284
44	HP:0001252	Hypotonia	HP:0040282
45	HP:0010794	Impaired visuospatial constructive cognition	HP:0040282
46	HP:0002311	Incoordination	HP:0040282
47	HP:0000023	Inguinal hernia	HP:0040283
48	HP:0001249	Intellectual disability	HP:0040282
49	HP:0001511	Intrauterine growth retardation
50	HP:0001388	Joint laxity	HP:0040282
51	HP:0002751	Kyphoscoliosis	HP:0040282
52	HP:0009748	Large earlobe	HP:0040282
53	HP:0000343	Long philtrum	HP:0040282
54	HP:0000272	Malar flattening	HP:0040283
55	HP:0010747	Medial flaring of the eyebrow	HP:0040282
56	HP:0000691	Microdontia	HP:0040282
57	HP:0000054	Micropenis	HP:0040283
58	HP:0011800	Midface retrusion
59	HP:0001653	Mitral regurgitation	HP:0040282
60	HP:0004764	Myxomatous mitral valve degeneration	HP:0040284
61	HP:0000341	Narrow forehead	HP:0040282
62	HP:0000121	Nephrocalcinosis	HP:0040284
63	HP:0001513	Obesity	HP:0040282
64	HP:0008770	Obsessive-compulsive trait
65	HP:0000833	obsolete Glucose intolerance
66	HP:0000194	Open mouth	HP:0040282
67	HP:0000938	Osteopenia	HP:0040282
68	HP:0000939	Osteoporosis	HP:0040282
69	HP:0000767	Pectus excavatum	HP:0040283
70	HP:0000125	Pelvic kidney
71	HP:0000629	Periorbital fullness	HP:0040282
72	HP:0004969	Peripheral pulmonary artery stenosis	HP:0040282
73	HP:0002183	Phonophobia	HP:0040282
74	HP:0002370	Poor coordination
75	HP:0001409	Portal hypertension	HP:0040283
76	HP:0002216	Premature graying of hair	HP:0040282
77	HP:0001642	Pulmonic stenosis	HP:0040282
78	HP:0002974	Radioulnar synostosis	HP:0040283
79	HP:0002035	Rectal prolapse	HP:0040282
80	HP:0000403	Recurrent otitis media	HP:0040282
81	HP:0000010	Recurrent urinary tract infections	HP:0040282
82	HP:0001920	Renal artery stenosis	HP:0040283
83	HP:0000089	Renal hypoplasia
84	HP:0000083	Renal insufficiency
85	HP:0001136	Retinal arteriolar tortuosity	HP:0040283
86	HP:0000407	Sensorineural hearing impairment	HP:0040282
87	HP:0003196	Short nose	HP:0040282
88	HP:0004322	Short stature	HP:0040282
89	HP:0002360	Sleep disturbance	HP:0040283
90	HP:0001792	Small nail	HP:0040282
91	HP:0000977	Soft skin	HP:0040282
92	HP:0000486	Strabismus	HP:0040282
93	HP:0001297	Stroke	HP:0040284
94	HP:0001699	Sudden death	HP:0040284
95	HP:0004381	Supravalvular aortic stenosis	HP:0040284
96	HP:0000179	Thick lower lip vermilion	HP:0040282
97	HP:0001537	Umbilical hernia	HP:0040283
98	HP:0008661	Urethral stenosis	HP:0040282
99	HP:0001629	Ventricular septal defect	HP:0040283
100	HP:0000076	Vesicoureteral reflux
101	HP:0001605	Vocal cord paralysis	HP:0040283

Disease Causing ClinVar Variants