Sensorineural hearing impairment
Symptom Information:
Symptom ID: | HPO:0000407 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Synonyms: |
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Cross references: |
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Is a (Direct Parents): |
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Is a (Whole tree): |
HPO:
All(HPO:0000001) Phenotypic abnormality(HPO:0000118) Abnormality of the ear(HPO:0000598) Abnormality of the inner ear(HPO:0000359) Functional abnormality of the inner ear(HPO:0011389) Sensorineural hearing impairment(HPO:0000407) Hearing abnormality(HPO:0000364) Hearing impairment(HPO:0000365) Sensorineural hearing impairment(HPO:0000407) MedDRA: Ear and labyrinth disorders(MedDRA:10013993) Hearing disorders(MedDRA:10019243) Hearing impairment(HPO:0000365) Sensorineural hearing impairment(HPO:0000407) Congenital, familial and genetic disorders(MedDRA:10010331) Ear and labyrinthine disorders congenital(MedDRA:10013995) Hearing disorders congenital(MedDRA:10019244) Hearing impairment(HPO:0000365) Sensorineural hearing impairment(HPO:0000407) |
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Database Frequency: | 524 / 7739 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Resource: |
All diseases associated with this symptom:
16p13.11 microdeletion syndrome | (Orphanet:261236) |
19p13.12 microdeletion syndrome | (Orphanet:254346) |
1p36 deletion syndrome | (Orphanet:1606) |
1q21.1 microdeletion syndrome | (Orphanet:250989) |
2p15p16.1 microdeletion syndrome | (Orphanet:261349) |
2q37 microdeletion syndrome | (Orphanet:1001) |
6q25 microdeletion syndrome | (Orphanet:251056) |
8q12 microduplication syndrome | (Orphanet:228399) |
8q21.11 microdeletion syndrome | (Orphanet:284160) |
ALG11-CDG | (Orphanet:280071) |
ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS ANDDIABETES MELLITUS | (OMIM:616192) |
ATAXIA, DEAFNESS, AND CARDIOMYOPATHY | (OMIM:208750) |
ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTICATROPHY AND MENTAL RETARDATION | (OMIM:270500) |
AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT, 1 | (OMIM:609129) |
AXENFELD-RIEGER ANOMALY WITH PARTIALLY ABSENT EYE MUSCLES, DISTINCTIVEFACE, HYDROCEPHALY, AND SKELETAL ABNORMALITIES | (OMIM:109120) |
AXENFELD-RIEGER SYNDROME, TYPE 3 | (OMIM:602482) |
Abruzzo-Erickson syndrome | (Orphanet:921) |
Ackerman syndrome | (Orphanet:2561) |
Acro-osteolysis-keloid-like lesions-premature aging syndrome | (Orphanet:363665) |
Acro-oto-ocular syndrome | (Orphanet:2980) |
Acro-renal-ocular syndrome | (Orphanet:959) |
Acrocallosal syndrome | (Orphanet:36) |
Acrocraniofacial dysostosis | (Orphanet:949) |
Acute infantile liver failure-multisystemic involvement syndrome | (Orphanet:370088) |
Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency | (Orphanet:329314) |
Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia | (Orphanet:52055) |
Albinism-deafness syndrome | (Orphanet:998) |
Alpha-N-acetylgalactosaminidase deficiency type 2 | (Orphanet:79280) |
Alpha-mannosidosis | (Orphanet:61) |
Alpha-thalassemia - X-linked intellectual deficit syndrome | (Orphanet:847) |
Alport syndrome | (Orphanet:63) |
Alström syndrome | (Orphanet:64) |
Aniridia | (Orphanet:77) |
Anophthalmia/microphthalmia - esophageal atresia | (Orphanet:77298) |
Apert syndrome | (Orphanet:87) |
Arthrogryposis - renal dysfunction - cholestasis | (Orphanet:2697) |
Arthrogryposis-like hand anomaly - sensorineural deafness | (Orphanet:1144) |
Ataxia-deafness-retardation syndrome | (Orphanet:1188) |
Atherosclerosis - deafness - diabetes - epilepsy - nephropathy | (Orphanet:1192) |
Autosomal dominant Charcot-Marie-Tooth disease type 2C | (Orphanet:99937) |
Autosomal dominant Charcot-Marie-Tooth disease type 2J | (Orphanet:99943) |
Autosomal dominant intermediate Charcot-Marie-Tooth disease type E | (Orphanet:93114) |
Autosomal dominant nonsyndromic sensorineural deafness type DFNA | (Orphanet:90635) |
Autosomal dominant optic atrophy plus syndrome | (Orphanet:1215) |
Autosomal dominant osteosclerosis, Worth type | (Orphanet:2790) |
Autosomal dominant progressive external ophthalmoplegia | (Orphanet:254892) |
Autosomal dominant spastic paraplegia type 29 | (Orphanet:101009) |
Autosomal recessive Stickler syndrome | (Orphanet:250984) |
Autosomal recessive deafness-onychodystrophy syndrome | (Orphanet:79500) |
Autosomal recessive distal renal tubular acidosis with deafness | (Orphanet:93611) |
Autosomal recessive hypophosphatemic rickets | (Orphanet:289176) |
Autosomal recessive nonsyndromic sensorineural deafness type DFNB | (Orphanet:90636) |
Autosomal recessive spastic paraplegia type 44 | (Orphanet:320401) |
BARAITSER-WINTER SYNDROME 1 | (OMIM:243310) |
BARTTER SYNDROME, TYPE 4A | (OMIM:602522) |
BARTTER SYNDROME, TYPE 4B | (OMIM:613090) |
BRANCHIOOTIC SYNDROME 1 | (OMIM:602588) |
BRANCHIOOTIC SYNDROME 3 | (OMIM:608389) |
BRANCHIOOTORENAL SYNDROME 1 | (OMIM:113650) |
BROWN-VIALETTO-VAN LAERE SYNDROME 1 | (OMIM:211530) |
BROWN-VIALETTO-VAN LAERE SYNDROME 2 | (OMIM:614707) |
Baraitser-Winter syndrome | (Orphanet:2995) |
Bardet-Biedl syndrome 12 | (OMIM:615989) |
Biotinidase deficiency | (Orphanet:79241) |
Björnstad syndrome | (Orphanet:123) |
Blepharophimosis-intellectual deficit syndrome, Ohdo type | (Orphanet:2728) |
Blepharophimosis-intellectual deficit syndrome, Verloes type | (Orphanet:293725) |
Bosley-Salih-Alorainy syndrome | (Orphanet:69737) |
Brachydactyly type B2 | (Orphanet:140908) |
Branchio-oculo-facial syndrome | (Orphanet:1297) |
Branchio-otic syndrome | (Orphanet:52429) |
Branchiogenic deafness syndrome | (Orphanet:50815) |
Brittle cornea syndrome | (Orphanet:90354) |
CADDS | (Orphanet:369942) |
CARPENTER SYNDROME 1 | (OMIM:201000) |
CATARACTS, CONGENITAL, WITH SENSORINEURAL DEAFNESS, DOWN SYNDROME-LIKEFACIAL APPEARANCE, SHORT STATURE, AND MENTAL RETARDATION | (OMIM:601088) |
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURALHEARING LOSS, AND SKELETAL DYSPLASIA | (OMIM:616007) |
CEDNIK syndrome | (Orphanet:66631) |
CEREBELLAR ATAXIA AND NEUROSENSORY DEAFNESS | (OMIM:212850) |
CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURALHEARING LOSS | (OMIM:601338) |
CEREBROOCULOFACIOSKELETAL SYNDROME 1 | (OMIM:214150) |
CINCA syndrome | (Orphanet:1451) |
COCKAYNE SYNDROME A | (OMIM:216400) |
COCKAYNE SYNDROME B | (OMIM:133540) |
CODAS syndrome | (Orphanet:1458) |
COENZYME Q10 DEFICIENCY, PRIMARY, 1 | (OMIM:607426) |
COFS syndrome | (Orphanet:1466) |
CORNELIA DE LANGE SYNDROME 1 | (OMIM:122470) |
CRANIOSYNOSTOSIS-MENTAL RETARDATION SYNDROME OF LIN AND GETTIG | (OMIM:218649) |
CUTIS VERTICIS GYRATA, RETINITIS PIGMENTOSA, AND SENSORINEURAL DEAFNESS | (OMIM:605685) |
Camptodactyly - tall stature - scoliosis - hearing loss | (Orphanet:85164) |
Carpenter syndrome | (Orphanet:65759) |
Carpenter-Waziri syndrome | (Orphanet:93973) |
Cataract - ataxia - deafness | (Orphanet:1368) |
Cataract - deafness - hypogonadism | (Orphanet:1383) |
Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss | (Orphanet:1171) |
Cerebellar ataxia-deafness-narcolepsy syndrome | (Orphanet:314404) |
Cerebro-facio-articular syndrome | (Orphanet:314679) |
Charcot-Marie-Tooth disease - deafness - intellectual deficit | (Orphanet:90103) |
Charcot-Marie-Tooth disease type 1E | (Orphanet:90658) |
Charcot-Marie-Tooth disease type 4B2 | (Orphanet:99956) |
Choroideremia - deafness - obesity | (Orphanet:1435) |
Chudley-Lowry-Hoar syndrome | (Orphanet:93971) |
Cochleosaccular degeneration - cataract | (Orphanet:3233) |
Cockayne syndrome | (Orphanet:191) |
Coffin-Lowry syndrome | (Orphanet:192) |
Cogan syndrome | (Orphanet:1467) |
Cohen syndrome | (Orphanet:193) |
Combined oxidative phosphorylation defect type 17 | (Orphanet:369913) |
Conductive deafness - malformed external ear | (Orphanet:3216) |
Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay | (Orphanet:330054) |
Congenital rubella syndrome | (Orphanet:290) |
Corneal anesthesia - deafness - intellectual deficit | (Orphanet:1051) |
Corneal dystrophy - perceptive deafness | (Orphanet:1490) |
Cornelia de Lange syndrome | (Orphanet:199) |
Crandall syndrome | (Orphanet:202) |
Craniofacial dysplasia-osteopenia syndrome | (Orphanet:314555) |
Craniofacial-deafness-hand syndrome | (Orphanet:1529) |
Craniofrontonasal dysplasia | (Orphanet:1520) |
Craniometaphyseal dysplasia | (Orphanet:1522) |
Craniosynostosis - anal anomalies - porokeratosis | (Orphanet:85199) |
Cystic leukoencephalopathy without megalencephaly | (Orphanet:85136) |
D-glyceric aciduria | (Orphanet:941) |
DE SANCTIS-CACCHIONE SYNDROME | (OMIM:278800) |
DEAFNESS, AUTOSOMAL DOMINANT 1 | (OMIM:124900) |
DEAFNESS, AUTOSOMAL DOMINANT 10 | (OMIM:601316) |
DEAFNESS, AUTOSOMAL DOMINANT 12 | (OMIM:601543) |
DEAFNESS, AUTOSOMAL DOMINANT 13 | (OMIM:601868) |
DEAFNESS, AUTOSOMAL DOMINANT 21 | (OMIM:607017) |
DEAFNESS, AUTOSOMAL DOMINANT 23 | (OMIM:605192) |
DEAFNESS, AUTOSOMAL DOMINANT 25 | (OMIM:605583) |
DEAFNESS, AUTOSOMAL DOMINANT 28 | (OMIM:608641) |
DEAFNESS, AUTOSOMAL DOMINANT 33 | (OMIM:614211) |
DEAFNESS, AUTOSOMAL DOMINANT 36 | (OMIM:606705) |
DEAFNESS, AUTOSOMAL DOMINANT 3A | (OMIM:601544) |
DEAFNESS, AUTOSOMAL DOMINANT 44 | (OMIM:607453) |
DEAFNESS, AUTOSOMAL DOMINANT 48 | (OMIM:607841) |
DEAFNESS, AUTOSOMAL DOMINANT 49 | (OMIM:608372) |
DEAFNESS, AUTOSOMAL DOMINANT 50 | (OMIM:613074) |
DEAFNESS, AUTOSOMAL DOMINANT 64 | (OMIM:614152) |
DEAFNESS, AUTOSOMAL DOMINANT 67 | (OMIM:616340) |
DEAFNESS, AUTOSOMAL RECESSIVE 103 | (OMIM:616042) |
DEAFNESS, AUTOSOMAL RECESSIVE 16 | (OMIM:603720) |
DEAFNESS, AUTOSOMAL RECESSIVE 18A | (OMIM:602092) |
DEAFNESS, AUTOSOMAL RECESSIVE 2 | (OMIM:600060) |
DEAFNESS, AUTOSOMAL RECESSIVE 21 | (OMIM:603629) |
DEAFNESS, AUTOSOMAL RECESSIVE 22 | (OMIM:607039) |
DEAFNESS, AUTOSOMAL RECESSIVE 23 | (OMIM:609533) |
DEAFNESS, AUTOSOMAL RECESSIVE 27 | (OMIM:605818) |
DEAFNESS, AUTOSOMAL RECESSIVE 31 | (OMIM:607084) |
DEAFNESS, AUTOSOMAL RECESSIVE 35 | (OMIM:608565) |
DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT | (OMIM:609006) |
DEAFNESS, AUTOSOMAL RECESSIVE 37 | (OMIM:607821) |
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT | (OMIM:600791) |
DEAFNESS, AUTOSOMAL RECESSIVE 42 | (OMIM:609646) |
DEAFNESS, AUTOSOMAL RECESSIVE 46 | (OMIM:609647) |
DEAFNESS, AUTOSOMAL RECESSIVE 5 | (OMIM:600792) |
DEAFNESS, AUTOSOMAL RECESSIVE 51 | (OMIM:609941) |
DEAFNESS, AUTOSOMAL RECESSIVE 53 | (OMIM:609706) |
DEAFNESS, AUTOSOMAL RECESSIVE 59 | (OMIM:610220) |
DEAFNESS, AUTOSOMAL RECESSIVE 61 | (OMIM:613865) |
DEAFNESS, AUTOSOMAL RECESSIVE 66 | (OMIM:610212) |
DEAFNESS, AUTOSOMAL RECESSIVE 67 | (OMIM:610265) |
DEAFNESS, AUTOSOMAL RECESSIVE 68 | (OMIM:610419) |
DEAFNESS, AUTOSOMAL RECESSIVE 7 | (OMIM:600974) |
DEAFNESS, AUTOSOMAL RECESSIVE 74 | (OMIM:613718) |
DEAFNESS, AUTOSOMAL RECESSIVE 79 | (OMIM:613307) |
DEAFNESS, AUTOSOMAL RECESSIVE 8 | (OMIM:601072) |
DEAFNESS, AUTOSOMAL RECESSIVE 9 | (OMIM:601071) |
DEAFNESS, AUTOSOMAL RECESSIVE 98 | (OMIM:614861) |
DEAFNESS, MID-TONE NEURAL | (OMIM:124700) |
DEAFNESS, NEURAL, CONGENITAL MODERATE | (OMIM:221500) |
DEAFNESS, NEURAL, WITH ATYPICAL ATOPIC DERMATITIS | (OMIM:221700) |
DEAFNESS, SENSORINEURAL, WITH PERIPHERAL NEUROPATHY AND ARTERIAL DISEASE | (OMIM:124950) |
DEAFNESS, X-LINKED 4 | (OMIM:300066) |
DEAFNESS, Y-LINKED 1 | (OMIM:400043) |
DISORGANIZATION, MOUSE, HOMOLOG OF | (OMIM:223200) |
Deaf blind hypopigmentation syndrome, Yemenite type | (Orphanet:3214) |
Deafness , X-linked 1 | (OMIM:304500) |
Deafness - small bowel diverticulosis - neuropathy | (Orphanet:3217) |
Deafness - enamel hypoplasia - nail defects | (Orphanet:3220) |
Deafness - epiphyseal dysplasia - short stature | (Orphanet:3218) |
Deafness - genital anomalies - metacarpal and metatarsal synostosis | (Orphanet:3224) |
Deafness - intellectual deficit, Martin-Probst type | (Orphanet:85321) |
Deafness - lymphedema - leukemia | (Orphanet:3226) |
Deafness - oligodontia | (Orphanet:3230) |
Deafness - onychodystrophy | (Orphanet:3231) |
Deafness - onychodystrophy, autosomal dominant | (Orphanet:79499) |
Deafness - vitiligo - achalasia | (Orphanet:3239) |
Deafness with labyrinthine aplasia, microtia, and microdontia | (Orphanet:90024) |
Deafness-craniofacial syndrome | (Orphanet:3241) |
Deafness-infertility syndrome | (Orphanet:94064) |
Dentinogenesis imperfecta - short stature - hearing loss - intellectual deficit | (Orphanet:71267) |
Developmental malformations - deafness - dystonia | (Orphanet:79107) |
Distal 22q11.2 microdeletion syndrome | (Orphanet:261330) |
Distal limb deficiencies - micrognathia syndrome | (Orphanet:1307) |
Distal monosomy 10q | (Orphanet:96148) |
Distal monosomy 19p13.3 | (Orphanet:96129) |
Distal monosomy 6p | (Orphanet:96125) |
Donnai-Barrow syndrome | (Orphanet:2143) |
Dorfman-Chanarin disease | (Orphanet:98907) |
EAST syndrome | (Orphanet:199343) |
ECTODERMAL DYSPLASIA, SENSORINEURAL HEARING LOSS, AND DISTINCTIVEFACIAL FEATURES | (OMIM:609944) |
EEC syndrome | (Orphanet:1896) |
Ectodermal dysplasia - sensorineural deafness | (Orphanet:1883) |
Eosinophilic granulomatosis with polyangiitis | (Orphanet:183) |
Epiphyseal dysplasia - hearing loss - dysmorphism | (Orphanet:1825) |
Ermine phenotype | (Orphanet:999) |
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1 | (OMIM:158900) |
FG SYNDROME 4 | (OMIM:300422) |
FRIEDREICH ATAXIA, SO-CALLED, WITH OPTIC ATROPHY AND SENSORINEURALDEAFNESS | (OMIM:136600) |
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2 | (OMIM:615911) |
Fabry disease | (Orphanet:324) |
Facioscapulohumeral dystrophy | (Orphanet:269) |
Faisalabad histiocytosis | (Orphanet:254707) |
Familial cold urticaria | (Orphanet:47045) |
Familial cutaneous collagenoma | (Orphanet:53296) |
Familial isolated dilated cardiomyopathy | (Orphanet:154) |
Familial long QT syndrome | (Orphanet:768) |
Familial or sporadic hemiplegic migraine | (Orphanet:569) |
Familial progressive vestibulocochlear dysfunction | (Orphanet:1767) |
Familial steroid-resistant nephrotic syndrome with sensorineural deafness | (Orphanet:280406) |
Feingold syndrome | (Orphanet:1305) |
Fetal cytomegalovirus syndrome | (Orphanet:294) |
Fetal iodine syndrome | (Orphanet:1910) |
Fibrodysplasia ossificans progressiva | (Orphanet:337) |
Fine-Lubinsky syndrome | (Orphanet:1272) |
Flynn-Aird syndrome | (Orphanet:2047) |
Fountain syndrome | (Orphanet:3219) |
Frontometaphyseal dysplasia | (Orphanet:1826) |
GCS1-CDG | (Orphanet:79330) |
Galactose epimerase deficiency | (Orphanet:79238) |
Gemignani syndrome | (Orphanet:2074) |
Generalized resistance to thyroid hormone | (Orphanet:3221) |
Gingival fibromatosis - progressive deafness | (Orphanet:2027) |
Goldenhar syndrome | (Orphanet:374) |
Granulomatosis with polyangiitis | (Orphanet:900) |
Growth delay due to insulin-like growth factor type 1 deficiency | (Orphanet:73272) |
H syndrome | (Orphanet:168569) |
HISTIDINURIA DUE TO A RENAL TUBULAR DEFECT | (OMIM:235830) |
HUNTER-MACDONALD SYNDROME | (OMIM:611962) |
HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 1 | (OMIM:241520) |
Haddad syndrome | (Orphanet:99803) |
Hearing loss - familial salivary gland insensitivity to aldosterone | (Orphanet:3225) |
Hennekam syndrome | (Orphanet:2136) |
Hereditary sensory and autonomic neuropathy type 1 | (Orphanet:36386) |
Hereditary sensory and autonomic neuropathy type 1B | (Orphanet:139564) |
Hirschsprung disease | (Orphanet:388) |
Hirschsprung disease - deafness - polydactyly | (Orphanet:2155) |
Histidinuria - renal tubular defect | (Orphanet:2158) |
Holmes-Gang syndrome | (Orphanet:93970) |
Horizontal gaze palsy with progressive scoliosis | (Orphanet:2744) |
Hurler syndrome | (Orphanet:93473) |
Hurler-Scheie syndrome | (Orphanet:93476) |
Hyperleucine-isoleucinemia | (OMIM:238340) |
Hypermethioninemia encephalopathy due to adenosine kinase deficiency | (Orphanet:289290) |
Hyperostosis corticalis generalisata | (Orphanet:3416) |
Hyperphosphatasia-intellectual deficiency syndrome | (Orphanet:247262) |
Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation | (Orphanet:324525) |
Hypocomplementemic urticarial vasculitis | (Orphanet:36412) |
Hypoparathyroidism - deafness - renal disease | (Orphanet:2237) |
ICHTHYOSIFORM ERYTHRODERMA, CORNEAL INVOLVEMENT, AND DEAFNESS | (OMIM:242150) |
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS | (OMIM:602540) |
IMMUNODEFICIENCY 23 | (OMIM:615816) |
IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES | (OMIM:615966) |
Infantile Bartter syndrome with deafness | (Orphanet:89938) |
Infantile Refsum disease | (Orphanet:772) |
Infantile axonal neuropathy | (Orphanet:2679) |
Infantile cerebellar-retinal degeneration | (Orphanet:313850) |
Intellectual deficit, X-linked - Dandy-Walker malformation - basal ganglia disease - Seizures | (Orphanet:1568) |
Intellectual deficit, X-linked, Wittwer type | (Orphanet:85291) |
Isolated NADH-CoQ reductase deficiency | (Orphanet:2609) |
Isolated cytochrome C oxidase deficiency | (Orphanet:254905) |
Isolated sedoheptulokinase deficiency | (ORPHA:440713) |
Jervell and Lange-Nielsen syndrome 1 | (OMIM:220400) |
Jervell and Lange-Nielsen syndrome 2 | (OMIM:612347) |
Johanson-Blizzard syndrome | (Orphanet:2315) |
Joubert syndrome 21 | (OMIM:615636) |
Juberg-Marsidi syndrome | (Orphanet:93972) |
KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT | (OMIM:148210) |
KID syndrome | (Orphanet:477) |
KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT | (OMIM:118100) |
KLIPPEL-FEIL SYNDROME 2, AUTOSOMAL RECESSIVE | (OMIM:214300) |
Kabuki syndrome | (Orphanet:2322) |
Kallmann syndrome | (Orphanet:478) |
Kallmann syndrome - heart disease | (Orphanet:2326) |
Kawasaki disease | (Orphanet:2331) |
Kearns-Sayre syndrome | (Orphanet:480) |
Keipert syndrome | (Orphanet:2662) |
Keratoderma hereditarium mutilans | (Orphanet:494) |
Knuckle pads-leuconychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome | (Orphanet:2698) |
Krabbe disease | (Orphanet:487) |
LEOPARD SYNDROME 1 | (OMIM:151100) |
LEOPARD SYNDROME 3 | (OMIM:613707) |
Lacrimo-auriculo-dento-digital syndrome | (Orphanet:2363) |
Lateral meningocele syndrome | (Orphanet:2789) |
Laurence-Moon syndrome | (Orphanet:2377) |
Leber congenital amaurosis 1 | (OMIM:204000) |
Leigh syndrome | (Orphanet:506) |
Lenz-Majewski hyperostotic dwarfism | (Orphanet:2658) |
Lethal ataxia with deafness and optic atrophy | (Orphanet:1187) |
Lethal polymalformative syndrome, Boissel type | (Orphanet:210144) |
Lipodystrophy - intellectual deficit - deafness | (Orphanet:50811) |
Lowe-Kohn-Cohen syndrome | (Orphanet:2408) |
MEGDEL syndrome | (Orphanet:352328) |
MELAS | (Orphanet:550) |
MENTAL RETARDATION, X-LINKED 46 | (OMIM:300436) |
MERRF | (Orphanet:551) |
MGAT2-CDG | (Orphanet:79329) |
MICROCEPHALY 3, PRIMARY, AUTOSOMAL RECESSIVE | (OMIM:604804) |
MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) | (OMIM:603041) |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 12 | (OMIM:615249) |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 14 | (OMIM:615350) |
Mandibular hypoplasia-deafness-progeroid syndrome | (Orphanet:363649) |
Mandibulofacial dysostosis-microcephaly syndrome | (Orphanet:79113) |
Marshall syndrome | (Orphanet:560) |
Maternally-inherited diabetes and deafness | (Orphanet:225) |
Megalocornea-intellectual deficit syndrome | (Orphanet:2479) |
Metaphyseal chondrodysplasia, Jansen type | (Orphanet:33067) |
Microcephalic osteodysplastic primordial dwarfism type 2 | (Orphanet:2637) |
Microcephaly - deafness - intellectual deficit | (Orphanet:2533) |
Microcephaly-capillary malformation syndrome | (Orphanet:294016) |
Microphthalmia with brain and digit anomalies | (Orphanet:139471) |
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | (Orphanet:1933) |
Mitochondrial myopathy - lactic acidosis - deafness | (Orphanet:2597) |
Mitochondrial neurogastrointestinal encephalomyopathy | (Orphanet:298) |
Monosomy 18q | (Orphanet:1600) |
Mowat-Wilson syndrome | (Orphanet:2152) |
Moynahan syndrome | (Orphanet:2574) |
Muckle-Wells syndrome | (Orphanet:575) |
Mucopolysaccharidosis type 1 | (Orphanet:579) |
Mucopolysaccharidosis type 2, attenuated form | (Orphanet:217093) |
Muenke syndrome | (Orphanet:53271) |
Multiple epiphyseal dysplasia | (Orphanet:251) |
Multiple sulfatase deficiency | (Orphanet:585) |
Mutilating palmoplantar keratoderma with periorificial keratotic plaques | (Orphanet:659) |
Myoclonus - cerebellar ataxia - deafness | (Orphanet:2589) |
Myopathy, lactic acidosis, and sideroblastic anemia 1; MLASA1 | (OMIM:600462) |
N syndrome | (Orphanet:2608) |
NEUROENDOCRINE CARCINOMA OF SALIVARY GLANDS, SENSORINEURAL HEARINGLOSS, AND ENAMEL HYPOPLASIA | (OMIM:603641) |
NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET | (OMIM:616263) |
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA | (OMIM:162400) |
NEUROPATHY, HEREDITARY SENSORY, TYPE IE | (OMIM:614116) |
NLRP12-associated hereditary periodic fever syndrome | (Orphanet:247868) |
NOONAN SYNDROME 1 | (OMIM:163950) |
Nail-patella syndrome | (Orphanet:2614) |
Nathalie syndrome | (Orphanet:2663) |
Neonatal adrenoleukodystrophy | (Orphanet:44) |
Nephronophthisis-like nephropathy 1 | (OMIM:613159) |
Nephropathy - deafness - hyperparathyroidism | (Orphanet:2668) |
Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome | (Orphanet:300333) |
Neuroectodermal-endocrine syndrome | (Orphanet:2676) |
Neurofibromatosis type 2 | (Orphanet:637) |
Neurologic Waardenburg-Shah syndrome | (Orphanet:163746) |
Neurological conditions associated with aminoacylase 1 deficiency | (Orphanet:137754) |
Neutral lipid storage disease | (Orphanet:165) |
Neutral lipid storage myopathy | (Orphanet:98908) |
Neutropenia - monocytopenia - deafness | (Orphanet:2690) |
Nonacquired combined pituitary hormone deficiency with spine abnormalities | (Orphanet:231720) |
Noonan syndrome | (Orphanet:648) |
Noonan syndrome with multiple lentigines | (Orphanet:500) |
Norrie disease | (Orphanet:649) |
OPITZ-KAVEGGIA SYNDROME | (OMIM:305450) |
OTOFACIOOSSEOUS-GONADAL SYNDROME | (OMIM:601976) |
Ocular albinism with congenital sensorineural deafness | (Orphanet:352740) |
Ocular albinism with late-onset sensorineural deafness | (Orphanet:1000) |
Oculoauriculovertebral spectrum with radial defects | (Orphanet:2549) |
Oculocerebral hypopigmentation syndrome, Cross type | (Orphanet:2719) |
Oculofaciocardiodental syndrome | (Orphanet:2712) |
Oculootodental syndrome | (Orphanet:99806) |
Oculopharyngodistal myopathy | (Orphanet:98897) |
Okihiro syndrome | (Orphanet:93293) |
Opitz G/BBB syndrome | (Orphanet:2745) |
Osteochondrodysplatic nanism - deafness - retinitis pigmentosa | (Orphanet:2653) |
Osteopenia - myopia - hearing loss - intellectual deficit - facial dysmorphism | (Orphanet:91133) |
Otodental syndrome | (Orphanet:2791) |
Otospondylomegaepiphyseal dysplasia | (Orphanet:1427) |
PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS | (OMIM:614369) |
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) | (OMIM:214100) |
PEROXISOME BIOGENESIS DISORDER 1B | (OMIM:601539) |
PEROXISOME BIOGENESIS DISORDER 3B | (OMIM:266510) |
PEROXISOME BIOGENESIS DISORDER 4B | (OMIM:614863) |
PEROXISOME BIOGENESIS DISORDER 5B | (OMIM:614867) |
PEROXISOME BIOGENESIS DISORDER 6B | (OMIM:614871) |
PEROXISOME BIOGENESIS DISORDER 7B | (OMIM:614873) |
PEROXISOME BIOGENESIS DISORDER 8B | (OMIM:614877) |
PEROXISOME BIOGENESIS DISORDER 9B | (OMIM:614879) |
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,AUTOSOMAL DOMINANT, 1 | (OMIM:157640) |
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,AUTOSOMAL DOMINANT, 2 | (OMIM:609283) |
PRUNE BELLY SYNDROME WITH PULMONIC STENOSIS, MENTAL RETARDATION, ANDDEAFNESS | (OMIM:264140) |
Palmoplantar keratoderma-deafness syndrome | (Orphanet:2202) |
Patterson-Stevenson-Fontaine syndrome | (Orphanet:2439) |
Pendred syndrome | (Orphanet:705) |
Peroxisomal acyl-CoA oxidase deficiency | (Orphanet:2971) |
Perrault Syndrome | (Orphanet:2855) |
Perrault Syndrome 1 | (OMIM:233400) |
Perrault Syndrome 2 | (OMIM:614926) |
Perrault Syndrome 3 | (OMIM:614129) |
Perrault Syndrome 4 | (OMIM:615300) |
Perrault Syndrome 5 | (OMIM:616138) |
Phosphoribosylpyrophosphate synthetase superactivity | (Orphanet:3222) |
Piebald trait - neurologic defects | (Orphanet:2885) |
Pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome | (Orphanet:254723) |
Polyarteritis nodosa, childhood-onset | (OMIM:615688) |
Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract | (Orphanet:171848) |
Pontine tegmental cap dysplasia | (Orphanet:269229) |
Progeria - short stature - pigmented nevi | (Orphanet:2959) |
Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome | (Orphanet:228012) |
Proximal symphalangism | (Orphanet:3250) |
RETINITIS PIGMENTOSA INVERSA WITH DEAFNESS | (OMIM:268010) |
RFT1-CDG | (Orphanet:244310) |
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 | (OMIM:616331) |
Radio-ulnar synostosis - amegakaryocytic thrombocytopenia | (Orphanet:71289) |
Ramon syndrome | (Orphanet:3019) |
Refsum disease | (Orphanet:773) |
Relapsing polychondritis | (Orphanet:728) |
Renal caliceal diverticuli - deafness | (Orphanet:2838) |
Renal coloboma syndrome | (Orphanet:1475) |
Renier-Gabreels-Jasper syndrome | (Orphanet:93975) |
Renpenning syndrome | (Orphanet:3242) |
Reticular dysgenesis | (Orphanet:33355) |
Retinitis pigmentosa | (Orphanet:791) |
Retinitis pigmentosa - intellectual deficit - deafness - hypogenitalism | (Orphanet:3085) |
Retinohepatoendocrinologic syndrome | (Orphanet:3087) |
Rhizomelic chondrodysplasia punctata | (Orphanet:177) |
Rhizomelic chondrodysplasia punctata type 1 | (Orphanet:309789) |
Riboflavin transporter deficiency | (Orphanet:97229) |
Richards-Rundle syndrome | (Orphanet:1399) |
Rosaï-Dorfman disease | (Orphanet:158014) |
Rothmund-Thomson syndrome | (Orphanet:2909) |
SHORT syndrome | (Orphanet:3163) |
SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS,AND DEVELOPMENTAL DELAY | (OMIM:616084) |
SPONDYLOMEGAEPIPHYSEAL DYSPLASIA WITH UPPER LIMB MESOMELIA, PUNCTATECALCIFICATIONS, AND DEAFNESS | (OMIM:609616) |
STARGARDT MACULAR DEGENERATION, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM,MENTAL RETARDATION, AND DYSMORPHIC FEATURES | (OMIM:612948) |
STICKLER SYNDROME, TYPE I | (OMIM:108300) |
Saethre-Chotzen syndrome | (Orphanet:794) |
Scheie syndrome | (Orphanet:93474) |
Schinzel-Giedion syndrome | (Orphanet:798) |
Sclerosteosis | (Orphanet:3152) |
Sensorineural deafness with dilated cardiomyopathy | (Orphanet:217622) |
Sensorineural hearing loss - early graying - essential tremor | (Orphanet:66633) |
Sensory ataxic neuropathy-dysarthria-ophthalmoparesis | (Orphanet:70595) |
Septo-optic dysplasia | (Orphanet:3157) |
Severe combined immunodeficiency | (Orphanet:183660) |
Severe combined immunodeficiency due to adenosine deaminase deficiency | (Orphanet:277) |
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome | (Orphanet:369939) |
Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency | (Orphanet:35123) |
Short stature - deafness - neutrophil dysfunction - dysmorphism | (Orphanet:2866) |
Sialidosis type 1 | (Orphanet:812) |
Smith-Fineman-Myers syndrome | (Orphanet:93974) |
Smith-Lemli-Opitz syndrome | (Orphanet:818) |
Spastic paraparesis - deafness | (Orphanet:2815) |
Spastic paraplegia - nephritis - deafness | (Orphanet:2820) |
Spinocerebellar ataxia type 31 | (Orphanet:217012) |
Spinocerebellar ataxia with epilepsy | (Orphanet:254881) |
Split hand - split foot - deafness | (Orphanet:71271) |
Split hand-split foot malformation | (Orphanet:2440) |
Spondylo-ocular syndrome | (Orphanet:85194) |
Spondylocarpotarsal synostosis | (Orphanet:3275) |
Spondyloepiphyseal dysplasia, MacDermot type | (Orphanet:163668) |
Spondyloperipheral dysplasia - short ulna | (Orphanet:1856) |
Sporadic Leigh syndrome | (Orphanet:255199) |
Steinert myotonic dystrophy | (Orphanet:273) |
Stickler syndrome | (Orphanet:828) |
Stickler syndrome type 1 | (Orphanet:90653) |
Stickler syndrome type 2 | (Orphanet:90654) |
Stickler syndrome type 3 | (Orphanet:166100) |
Stiff skin syndrome | (Orphanet:2833) |
Thiamine-responsive megaloblastic anemia syndrome | (Orphanet:49827) |
Thrombocytopenia - absent radius | (Orphanet:3320) |
Thyrocerebrorenal syndrome | (Orphanet:3327) |
Townes-Brocks syndrome | (Orphanet:857) |
Triple A syndrome | (Orphanet:869) |
Trisomy 13 | (Orphanet:3378) |
USHER SYNDROME, TYPE IG | (OMIM:606943) |
Upper limb defect - eye and ear abnormalities | (Orphanet:2489) |
Usher syndrome | (Orphanet:886) |
Usher syndrome type 1 | (Orphanet:231169) |
Usher syndrome type 2 | (Orphanet:231178) |
Usher syndrome type 3 | (Orphanet:231183) |
Uveal coloboma - cleft lip and palate - intellectual deficit | (Orphanet:1473) |
VAN MALDERGEM SYNDROME 1 | (OMIM:601390) |
VAN MALDERGEM SYNDROME 2 | (OMIM:615546) |
Vici syndrome | (Orphanet:1493) |
Vogt-Koyanagi-Harada disease | (Orphanet:3437) |
Von Hippel-Lindau disease | (Orphanet:892) |
WAARDENBURG SYNDROME, TYPE 2B | (OMIM:600193) |
WAARDENBURG SYNDROME, TYPE 2E | (OMIM:611584) |
WAARDENBURG SYNDROME, TYPE 4A | (OMIM:277580) |
WAARDENBURG SYNDROME, TYPE 4B | (OMIM:613265) |
WAARDENBURG SYNDROME, TYPE 4C | (OMIM:613266) |
WT limb-blood syndrome | (Orphanet:3466) |
Waardenburg syndrome | (Orphanet:3440) |
Waardenburg syndrome type 2 | (Orphanet:895) |
Waardenburg syndrome type 3 | (Orphanet:896) |
Waardenburg-Shah syndrome | (Orphanet:897) |
Warsaw breakage syndrome | (Orphanet:280558) |
Weissenbacher- Zweymuller syndrome | (Orphanet:3450) |
Wildervanck syndrome | (Orphanet:3456) |
Williams syndrome | (Orphanet:904) |
Wolf-Hirschhorn syndrome | (Orphanet:280) |
Wolfram syndrome | (Orphanet:3463) |
Wolfram syndrome 1 | (OMIM:222300) |
Wolfram syndrome 2 | (OMIM:604928) |
Wolfram syndrome, mitochondrial form | (OMIM:598500) |
Woodhouse-Sakati syndrome | (Orphanet:3464) |
Worster-Drought syndrome | (Orphanet:3465) |
X-linked Alport syndrome | (Orphanet:88917) |
X-linked Charcot-Marie-Tooth disease type 1 | (Orphanet:101075) |
X-linked Charcot-Marie-Tooth disease type 4 | (Orphanet:101078) |
X-linked Charcot-Marie-Tooth disease type 5 | (Orphanet:99014) |
X-linked Charcot-Marie-Tooth disease type 6 | (Orphanet:352675) |
X-linked dominant chondrodysplasia punctata | (Orphanet:35173) |
X-linked intellectual deficit - hypotonic face | (Orphanet:73220) |
X-linked intellectual deficit, Najm type | (Orphanet:163937) |
X-linked mandibulofacial dysostosis | (Orphanet:1131) |
X-linked spinocerebellar ataxia type 3 | (Orphanet:85297) |
Xeroderma pigmentosum | (Orphanet:910) |
Xeroderma pigmentosum complementation group A | (Orphanet:276249) |
Xeroderma pigmentosum complementation group B | (Orphanet:276252) |
Xeroderma pigmentosum complementation group D | (Orphanet:276258) |
Xeroderma pigmentosum/Cockayne syndrome complex | (Orphanet:220295) |
Zellweger syndrome | (Orphanet:912) |
Zellweger-like syndrome without peroxisomal anomalies | (Orphanet:50812) |