ORPHA:684232
Intellectual disability-epilepsy-dental anomalies-facial dysmorphism syndrome
Synonyms: Den Hoed-De Boer-Voisin syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- 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-epilepsy-dental anomalies-facial dysmorphism syndrome | Den Hoed-De Boer-Voisin syndrome |
| fr | Syndrome de déficience intellectuelle-épilepsie-anomalies dentaires-dysmorphie faciale | Syndrome de Den Hoed-De Boer-Voisin |
| de | Intelligenzminderung-Epilepsie-Zahnanomalien-Gesichtsdysmorphien-Syndrom | Den Hoed-De Boer-Voisin-Syndrom |
| es | Síndrome de discapacidad intelectual-epilepsia-anomalías dentales-dismorfia facial | Síndrome de Den Hoed-De Boer-Voisin |
| it | Sindrome disabilità intellettiva-epilessia-anomalie dentali-dismorfismi facciali | Sindrome di Den Hoed-De Boer-Voisin |
| nl | Intellectuele achterstand - epilepsie - dentale anomalieën - faciale dysmorfie-syndroom | Syndroom van Den Hoed-De Boer |
| pt | Síndrome de perturbação do desenvolvimento intelectual-epilepsia-anomalias dentárias-dismorfia facial | Síndrome Den Hoed-De Boer-Voisin |
| pl | Intellectual disability-epilepsy-dental anomalies-facial dysmorphism syndrome | = en |
| cs | Syndrom zahrnující intelektovou nedostatečnost, epilepsii, anomálie zubů a faciální dysmorfii | = en |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 619228 | BTNT | validated | |
| OMIM | 619229 | BTNT | validated | |
| MONDO | 975882 | 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 (5):
- ORPHA:183580Genetic malformation syndrome with odontal and/or periodontal component
rare genetic diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:139042Malformation syndrome with odontal and/or periodontal component
rare developmental anomalies during embryogenesis; rare odontological 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
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SATB1 | Disease-causing germline mutation(s) in | Assessed | HGNC:10541 | ENSG00000182568 | 602075 | 3p24.3 | SATB homeobox 1 | 33513338[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 41 cases | Worldwide | Case(s) | Validated | 33513338[PMID]_33513338[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 33513338[PMID]_33513338[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/684232
- This record as JSON: /data/d/684232.json