ORPHA:90642
Rare syndromic genetic deafness
Synonyms: Rare syndromic genetic hearing loss
- Type
- Category
- Group
- Group of disorders
- Status
- active
This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Rare syndromic genetic deafness | Rare syndromic genetic hearing loss |
| fr | Surdité génétique syndromique rare | |
| de | Seltene syndromale genetisch bedingte Schwerhörigkeit | Seltener syndromaler genetisch bedingter Hörverlust |
| es | Sordera genética sindrómica rara | Hipoacusia genética sindrómica rara |
| it | Sordità genetica sindromica rara | Perdita dell'udito genetica sindromica rara |
| nl | Zeldzame syndromale genetische doofheid | Zeldzaam syndromaal genetisch gehoorverlies |
| pt | Surdez sindrómática | |
| pl | Syndromiczna głuchota genetyczna | = en |
| cs | Syndromová geneticky podmíněná hluchota | = en |
| uk | Синдромальна генетично обумовлена глухота | Синдромна генетична приглухуватість |
| zh | 综合征性遗传性耳聋 | 综合征性遗传性听觉丧失 |
| tr | Sendromik genetik sağırlık | Sendromik genetik işitme kaybı |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | LD2H | E | specific | validated |
| UMLS | C0395976 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:68361Rare deafness
rare otorhinolaryngological diseases - ORPHA:93890Rare developmental defect during embryogenesis
rare developmental anomalies during embryogenesis - ORPHA:96210Rare genetic deafness
rare genetic diseases
Children (193):
- ORPHA:4562981p35.2 microdeletion syndrome
- ORPHA:56722q11.2 deletion syndrome
- ORPHA:329336Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
- ORPHA:652532Adult-onset progressive leukoencephalopathy-early-onset deafness
- ORPHA:998Albinism-deafness syndrome
- ORPHA:63Alport syndrome
- ORPHA:64Alström syndrome
- ORPHA:1144Arthrogryposis-like hand anomaly-sensorineural deafness syndrome
- ORPHA:1188Ataxia-deafness-intellectual disability syndrome
- ORPHA:69739Athabaskan brainstem dysgenesis syndrome
- ORPHA:1192Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome
- ORPHA:542585Auditory neuropathy-optic atrophy syndrome
- ORPHA:314404Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome
- ORPHA:440354Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome
- ORPHA:166100Autosomal dominant otospondylomegaepiphyseal dysplasia
- ORPHA:402041Autosomal recessive distal renal tubular acidosis
- ORPHA:107BOR syndrome
- ORPHA:89938Bartter syndrome type 4
- ORPHA:140963Bilateral microtia-deafness-cleft palate syndrome
- ORPHA:69737Bosley-Salih-Alorainy syndrome
- ORPHA:50815Branchiogenic deafness syndrome
- ORPHA:52429Branchiootic syndrome
- ORPHA:1200Burn-McKeown syndrome
- ORPHA:138CHARGE syndrome
- ORPHA:3238Cardiospondylocarpofacial syndrome
- ORPHA:1368Cataract-ataxia-deafness syndrome
- ORPHA:1383Cataract-deafness-hypogonadism syndrome
- ORPHA:436174Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
- ORPHA:1123Caudal appendage-deafness syndrome
- ORPHA:1171Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
- ORPHA:90658Charcot-Marie-Tooth disease type 1E
- ORPHA:90103Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome
- ORPHA:589856Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
- ORPHA:314597Chudley-McCullough syndrome
- ORPHA:508476Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome
- ORPHA:2003Cleft lip/palate-deafness-sacral lipoma syndrome
- ORPHA:3233Cochleosaccular degeneration-cataract syndrome
- ORPHA:191Cockayne syndrome
- ORPHA:603494Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome
- ORPHA:447954Combined oxidative phosphorylation defect type 25
- ORPHA:3216Conductive deafness-malformed external ear syndrome
- ORPHA:330054Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
- ORPHA:371212Congenital disorder of glycosylation with deafness as a major feature
- ORPHA:729781Congenital generalized alopecia-hypoplastic kidneys-facial dysmorphism-sensorineural deafness syndrome
- ORPHA:521438Congenital vertebral-cardiac-renal anomalies syndrome
- ORPHA:300284Connective tissue disorder due to lysyl hydroxylase-3 deficiency
- ORPHA:1490Corneal dystrophy-perceptive deafness syndrome
- ORPHA:1529Craniofacial-deafness-hand syndrome
- ORPHA:494444DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome
- ORPHA:3214Deaf blind hypopigmentation syndrome, Yemenite type
- ORPHA:90024Deafness with labyrinthine aplasia, microtia, and microdontia
- ORPHA:3241Deafness-craniofacial syndrome
- ORPHA:3232Deafness-ear malformation-facial palsy syndrome
- ORPHA:3220Deafness-enamel hypoplasia-nail defects syndrome
- ORPHA:3218Deafness-epiphyseal dysplasia-short stature syndrome
- ORPHA:3224Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome
- ORPHA:90646Deafness-hypogonadism syndrome
- ORPHA:94064Deafness-infertility syndrome
- ORPHA:85321Deafness-intellectual disability syndrome, Martin-Probst type
- ORPHA:3230Deafness-oligodontia syndrome
- ORPHA:3231Deafness-onychodystrophy syndrome
- ORPHA:3217Deafness-small bowel diverticulosis-neuropathy syndrome
- ORPHA:3239Deafness-vitiligo-achalasia syndrome
- ORPHA:71267Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome
- ORPHA:79107Developmental malformations-deafness-dystonia syndrome
- ORPHA:529574Duane retraction syndrome with congenital deafness
- ORPHA:289553Dysmorphism-conductive hearing loss-heart defect syndrome
- ORPHA:199343EAST syndrome
- ORPHA:500144Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
- ORPHA:3240Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome
- ORPHA:708014Ectodermal dysplasia-natal teeth-skin abscesses-plantar hyperkeratosis-hearing impairment syndrome
- ORPHA:1883Ectodermal dysplasia-sensorineural deafness syndrome
- ORPHA:999Ermine phenotype
- ORPHA:280406Familial steroid-resistant nephrotic syndrome with sensorineural deafness
- ORPHA:3219Fountain syndrome
- ORPHA:2052Fraser syndrome
- ORPHA:637Full NF2-related schwannomatosis
- ORPHA:2074Gemignani syndrome
- ORPHA:2027Gingival fibromatosis-progressive deafness syndrome
- ORPHA:168569H syndrome
- ORPHA:3225Hearing loss-familial salivary gland insensitivity to aldosterone syndrome
- ORPHA:456318Hereditary sensory neuropathy-deafness-dementia syndrome
- ORPHA:363396High myopia-sensorineural deafness syndrome
- ORPHA:2155Hirschsprung disease-deafness-polydactyly syndrome
- ORPHA:443098Hyperostosis cranialis interna
- ORPHA:293958Hypertelorism-preauricular sinus-punctual pits-deafness syndrome
- ORPHA:293967Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
- ORPHA:2237Hypoparathyroidism-sensorineural deafness-renal disease syndrome
- ORPHA:330029Hypotrichosis-deafness syndrome
- ORPHA:699599ICHAD syndrome
- ORPHA:456312Infantile multisystem neurologic-endocrine-pancreatic disease
- ORPHA:714423Infantile-onset inflammatory bowel disease-hearing loss-recurrent infections syndrome
- ORPHA:684216Intellectual disability-facial dysmorphism-joint hypermobility-hearing loss syndrome
- ORPHA:90647Jervell and Lange-Nielsen syndrome
- ORPHA:445062Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome
- ORPHA:477KID syndrome
- ORPHA:480Kearns-Sayre syndrome
- ORPHA:494Keratoderma hereditarium mutilans
- ORPHA:2698Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome
- ORPHA:1187Lethal ataxia with deafness and optic atrophy
- ORPHA:50811Lipodystrophy-intellectual disability-deafness syndrome
- ORPHA:2408Lowe-Kohn-Cohen syndrome
- ORPHA:171851MEDNIK syndrome
- ORPHA:352328MEGDEL syndrome
- ORPHA:550MELAS
- ORPHA:397744MYH14-related peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
- ORPHA:182050MYH9-related syndromic thrombocytopenia
- ORPHA:363649Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome
- ORPHA:443995Mandibulofacial dysostosis with alopecia
- ORPHA:1248Maxillonasal dysplasia
- ORPHA:2502Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome
- ORPHA:2533Microcephaly-deafness-intellectual disability syndrome
- ORPHA:521445Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
- ORPHA:662179Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome
- ORPHA:457351Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
- ORPHA:688581Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome
- ORPHA:631248Mitchell Syndrome
- ORPHA:2597Mitochondrial myopathy-lactic acidosis-deafness syndrome
- ORPHA:52368Mohr-Tranebjaerg syndrome
- ORPHA:3237Multiple synostoses syndrome
- ORPHA:2589Myoclonus-cerebellar ataxia-deafness syndrome
- ORPHA:2608N syndrome
- ORPHA:2663Nathalie syndrome
- ORPHA:2668Nephropathy-deafness-hyperparathyroidism syndrome
- ORPHA:2669Nephrosis-deafness-urinary tract-digital malformations syndrome
- ORPHA:300333Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome
- ORPHA:139512Neuropathy with hearing impairment
- ORPHA:2690Neutropenia-monocytopenia-deafness syndrome
- ORPHA:231720Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome
- ORPHA:500Noonan syndrome with multiple lentigines
- ORPHA:649Norrie disease
- ORPHA:1000Ocular albinism with late-onset sensorineural deafness
- ORPHA:611201Oculogastrointestinal-neurodevelopmental syndrome
- ORPHA:557003Oculoskeletodental syndrome
- ORPHA:2732Olivopontocerebellar atrophy-deafness syndrome
- ORPHA:543470Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
- ORPHA:2750Orofaciodigital syndrome type 1
- ORPHA:2751Orofaciodigital syndrome type 2
- ORPHA:2753Orofaciodigital syndrome type 4
- ORPHA:2754Orofaciodigital syndrome type 6
- ORPHA:90650Otopalatodigital syndrome type 1
- ORPHA:90652Otopalatodigital syndrome type 2
- ORPHA:656130PBX1-related congenital anomalies of kidney-urinary tract syndrome
- ORPHA:438134PCNA-related progressive neurodegenerative photosensitivity syndrome
- ORPHA:2202Palmoplantar keratoderma-deafness syndrome
- ORPHA:705Pendred syndrome
- ORPHA:163746Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease
- ORPHA:2855Perrault syndrome
- ORPHA:171848Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome
- ORPHA:448251Progressive autosomal recessive ataxia-deafness syndrome
- ORPHA:3235Progressive deafness with stapes fixation
- ORPHA:228012Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome
- ORPHA:544503RNF13-related severe early-onset epileptic encephalopathy
- ORPHA:1051Ramos-Arroyo syndrome
- ORPHA:2838Renal caliceal diverticuli-deafness syndrome
- ORPHA:494439Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome
- ORPHA:3085Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome
- ORPHA:97229Riboflavin transporter deficiency
- ORPHA:1399Richards-Rundle syndrome
- ORPHA:633014SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome
- ORPHA:728662Sensorineural hearing loss-brainstem malformation-motor delay-balance impairment syndrome
- ORPHA:66633Sensorineural hearing loss-early graying-essential tremor syndrome
- ORPHA:659975Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome
- ORPHA:369939Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
- ORPHA:397623Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome
- ORPHA:2866Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome
- ORPHA:589442Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome
- ORPHA:324321Sinoatrial node dysfunction and deafness
- ORPHA:2815Spastic paraparesis-deafness syndrome
- ORPHA:2820Spastic paraplegia-nephritis-deafness syndrome
- ORPHA:71271Split hand-split foot-deafness syndrome
- ORPHA:488232Split-foot malformation-mesoaxial polydactyly syndrome
- ORPHA:163668Spondyloepiphyseal dysplasia, MacDermot type
- ORPHA:611207Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome
- ORPHA:140917Stapes ankylosis with broad thumbs and toes
- ORPHA:828Stickler syndrome
- ORPHA:457223Syndromic sensorineural deafness due to combined oxidative phosphorylation defect
- ORPHA:49827Thiamine-responsive megaloblastic anemia syndrome
- ORPHA:2405Thickened earlobes-conductive deafness syndrome
- ORPHA:42665Tietz syndrome
- ORPHA:857Townes-Brocks syndrome
- ORPHA:861Treacher-Collins syndrome
- ORPHA:688642Turnpenny-Fry syndrome
- ORPHA:886Usher syndrome
- ORPHA:3440Waardenburg syndrome
- ORPHA:897Waardenburg-Shah syndrome
- ORPHA:280Wolf-Hirschhorn syndrome
- ORPHA:3463Wolfram syndrome
- ORPHA:411590Wolfram-like syndrome
- ORPHA:64747X-linked Charcot-Marie-Tooth disease
- ORPHA:500188X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome
- ORPHA:220295Xeroderma pigmentosum-Cockayne syndrome complex
- ORPHA:1435Xq21 microdeletion syndrome
Codes that Orphanet moved or referred to this one:
- ORPHA:3215OBSOLETE: Deafness-white hair-contractures-papillomas syndrome referred to · inactive
- ORPHA:3229OBSOLETE: Deafness-peripheral neuropathy-arterial disease syndrome referred to · inactive
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/90642
- This record as JSON: /data/d/90642.json