Sensorineural hearing impairment
Symptom Information:
| Symptom ID: | HPO:0000407 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Synonyms: |
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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) Hearing abnormality(HPO:0000364) Hearing impairment(HPO:0000365) Sensorineural hearing impairment(HPO:0000407) Abnormality of the inner ear(HPO:0000359) Functional abnormality of the inner ear(HPO:0011389) 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) |