ORPHA:684216
Intellectual disability-facial dysmorphism-joint hypermobility-hearing loss syndrome
Synonyms: BEFAHRS · Beck-Fahrner syndrome · Intellectual disability-facial dysmorphism-joint hypermobility-deafness syndrome · TET3 deficiency · TET3-related Beck-Fahrner syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Status
- active
Orphadata ships no English definition for this code.
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Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Intellectual disability-facial dysmorphism-joint hypermobility-hearing loss syndrome | BEFAHRS · Beck-Fahrner syndrome · Intellectual disability-facial dysmorphism-joint hypermobility-deafness syndrome · TET3 deficiency · TET3-related Beck-Fahrner syndrome |
| fr | Syndrome de déficience intellectuelle-dysmorphie faciale-hypermobilité articulaire-surdité | BEFAHRS · Syndrome de Beck-Fahrner |
| de | Intelligenzminderung-Gesichtsdysmorphien-Gelenkhypermobilität-Hörverlust-Syndrom | BEFAHRS · Beck-Fahrner-Syndrom · TET3-Defizienz |
| es | Síndrome de discapacidad intelectual-dismorfia facial-hipermovilidad articular-hipoacusia | BEFAHRS · Deficiencia de TET3 · Síndrome de Beck-Fahrner · Síndrome de Beck-Fahrner asociado a TET3 · Síndrome de discapacidad intelectual-dismorfia facial-hipermovilidad articular-sordera |
| it | Sindrome disabilità intellettiva-dismorfismi facciali-ipermobilità articolare-sordità | BEFAHRS · Sindrome di Beck-Fahrner · Sindrome disabilità intellettiva-dismorfismi facciali-ipermobilità articolare-perdita delludito · Deficit di TET3 · Sindrome di Beck-Fahrner correlata a TET3 |
| nl | Intellectuele achterstand - faciale dysmorfie - gewrichtshypermobiliteit - gehoorverlies-syndroom | BEFAHRS · Intellectuele achterstand - faciale dysmorfie - gewrichtshypermobiliteit - doofheid-syndroom · Syndroom van Beck-Fahrner · TET3-deficiëntie · TET3-gerelateerd syndroom van Beck-Fahrner |
| pt | Síndrome de perturbação do desenvolvimento intelectual-dismorfia facial-hipermobilidade articular-perda auditiva | BEFAHRS · Deficiência TET3 · Síndrome Beck-Fahrner · Síndrome Beck-Fahrner TET3-relacionada · Síndrome de perturbação do desenvolvimento intelectual-dismorfia facial-hipermobilidade articular-surdez |
| pl | Intellectual disability-facial dysmorphism-joint hypermobility-hearing loss syndrome | = en |
| cs | Syndrom zahrnující intelektovou nedostatečnost, faciální dysmorfii, hypermobilitu kloubů a ztrátu sluchu | = en |
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Cross-references
qualifier = Orphanet mapping relationE 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 (4):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:166472Monogenic disease with epilepsy
rare genetic diseases; rare neurological 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.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TET3 | Disease-causing germline mutation(s) in | Assessed | HGNC:28313 | ENSG00000187605 | 613555 | 2p13.1 | tet methylcytosine dioxygenase 3 | 31928709[PMID]_34750377[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 31928709[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 31928709[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/684216
- This record as JSON: /data/d/684216.json