ORPHA:659975
Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome
Synonyms: Neurodevelopmental disorder with hearing loss and spastic quadriplegia · Sensorineural deafness-spastic quadriplegia-intellectual disability syndrome · Sensorineural hearing loss-spastic tetraplegia-intellectual disability syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Status
- active
Orphadata ships no English definition for this code.
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Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome | Neurodevelopmental disorder with hearing loss and spastic quadriplegia · Sensorineural deafness-spastic quadriplegia-intellectual disability syndrome · Sensorineural hearing loss-spastic tetraplegia-intellectual disability syndrome |
| fr | Syndrome de surdité neurosensorielle-quadriplégie spastique-déficience intellectuelle | Syndrome de surdité neurosensorielle-tétraplégie spastique-déficience intellectuelle |
| de | Schallempfindungsschwerhörigkeit-spastische Tetraplegie-Intelligenzminderung-Syndrom | Neurologische Entwicklungsstörung mit Hörverlust und Spastik · Neurologische Entwicklungsstörung mit Hörverlust und spastischer Tetraplegie |
| es | Síndrome de hipoacusia neurosensorial-cuadriplejía espástica-discapacidad intelectual | Síndrome de sordera neurosensorial-cuadriplejía espástica-discapacidad intelectual · Trastorno del neurodesarrollo con hipoacusia y cuadriplejia espástica |
| it | Sindrome sordità neurosensoriale-quadriplegia spastica-disabilità intellettiva | Malattia del neurosviluppo con sordità e quadriplegia spastica |
| nl | Sensorineuraal gehoorverlies - spastische quadriplegie - intellectuele achterstand-syndroom | Neurologische ontwikkelingsstoornis met gehoorverlies en spastische quadriplegie · Sensorineurale doofheid - spastische quadriplegie - intellectuele achterstand-syndroom |
| pt | Síndrome de perda auditiva neurossensorial-quadriplegia espástica-perturbação do desenvolvimento intelectual | Doença do neurodesenvolvimento com perda auditiva e quadriplegia espástica · Síndrome de surdez neurossensorial-quadriplegia espástica-perturbação do desenvolvimento intelectual |
| pl | Zespół ze zmysłowo-nerwowym niedosłuchem, spastycznym porażeniem czterokończynowym i niepełnosprawnością intelektualną | = en |
| cs | Syndrom zahrnující senzorineurální ztrátu sluchu, spastickou kvadruplegii a mentální retardaci | = en |
| uk | Синдром сенсоневральної приглухуватості-спастичної квадриплегії-інтелектуальної недостатності | Порушення нейророзвитку з втратою слуху та спастичною квадриплегією · Синдром сенсоневральної глухоти-спастичної квадриплегії- інтелектуальної недостатності · Синдром сенсоневральної приглухуватості - спастичної тетраплегії - інтелектуальної недостатності |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 619616 | E | validated | |
| ICD-10 | H91.8 | NTBT | attributed | validated |
| MONDO | 0859206 | E | validated | |
| MONDO | 859206 | E | validated | |
| UMLS | C5925134 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| AFG2B | Disease-causing germline mutation(s) in | Assessed | HGNC:28762 | ENSG00000171763 | 619578 | 15q21.1 | AAA ATPase AFG2B | 34626583[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 26 cases | Worldwide | Case(s) | Validated | 34626583[PMID]_34626583[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 34626583[PMID]_34626583[PMID]_ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/659975
- This record as JSON: /data/d/659975.json