ORPHA:436151
Intellectual disability-expressive aphasia-facial dysmorphism syndrome
Synonyms: Intellectual disability-loss of expressive language-facial dysmorphism syndrome · SETBP1 haploinsufficiency disorder · SETBP1-HD
- Type
- Malformation syndrome
- Group
- Disorder
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Intellectual disability-expressive aphasia-facial dysmorphism syndrome | Intellectual disability-loss of expressive language-facial dysmorphism syndrome · SETBP1 haploinsufficiency disorder · SETBP1-HD |
| fr | Syndrome de déficience intellectuelle-aphasie expressive-dysmorphie faciale | Syndrome de déficience intellectuelle-perte du langage verbal acquis-dysmorphie faciale · Trouble d'haploinsuffisance lié à SETBP1 |
| de | Intelligenzminderung-expressive Aphasie-Gesichtsdysmorphien-Syndrom | Syndromale Intelligenzminderung mit Verlust der expressiven Sprache und Gesichtsdysmorphien |
| es | Síndrome de discapacidad intelectual-afasia expresiva-dismorfia facial | SETBP1-HD · Síndrome de discapacidad intelectual-pérdida del lenguaje expresivo-dismorfia facial · Trastorno por haploinsuficiencia del gen SETBP1 |
| it | Sindrome disabilità intellettiva-afasia espressiva-dismorfismi facciali | Sindrome disabilità intellettiva-perdita del linguaggio espressivo-dismorfismi facciali · Malattia da aploinsufficienza di SETBP1 · SETBP1-HD |
| nl | Intellectuele achterstand - expressieve afasie - faciale dysmorfie-syndroom | Intellectuele achterstand - verlies van expressieve taal - faciale dysmorfie-syndroom · SETBP1-HD · SETBP1-haploinsufficiëntie |
| pt | Síndrome de perturbação do desenvolvimento intelectual-afasia de expressão-dismorfia facial | Síndrome de perturbação do desenvolvimento intelectual-perda de linguagem expressiva-dismorfia facial |
| pl | Zespół niepełnosprawności intelektualnej, afazji ekspresyjnej i dysmorfii twarzy | Zespół niepełnosprawności intelektualnej, utraty języka ekspresywnego i dysmorfii twarzy |
| cs | Syndrom zahrnující intelektovou nedostatečnost, expresivní afázii a faciální dysmorfii | Syndrom zahrnující intelektovou nedostatečnost, ztrátu vyjadřovacích schopností a faciální dysmorfii |
| uk | Синдром інтелектуальної недостатності-вираженої афазії-дисморфізму обличчя | Синдром інтелектуальної недостатності - втрати експресивної мови - лицьового дисморфізму |
| zh | 智力障碍-表达性失语-面部畸形综合征 | 智力障碍-语言表达障碍-面部畸形综合征 |
| tr | Zihinsel yetersizlik- ifade edici afazi-yüz dismorfizm sendromu | Zihinsel yetersizlik-ifade edici dil kaybı-fasiyal dismorfizm sendromu |
Definition in:
2
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 (2):
- ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases - ORPHA:211053Specific language disorder
rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SETBP1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:15573 | ENSG00000152217 | 611060 | 18q12.3 | SET binding protein 1 | 38923504[PMID]_33867525[PMID] |
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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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/436151
- This record as JSON: /data/d/436151.json