| Metadata | |
|---|---|
| ID | DOID:0070054 |
| Name | Vulto-van Silfout-de Vries syndrome |
| Definition | An autosomal dominant intellectual developmental disorder characterized by delayed psychomotor development, poor expressive speech, and behavioral abnormalities that has_material_basis_in an autosomal dominant mutation of the DEAF1 gene on chromosome 11p15.5. https://pubmed.ncbi.nlm.nih.gov/30923367/, https://www.ncbi.nlm.nih.gov/pubmed/21076407 |
| Xrefs | |
| Synonyms |
autosomal dominant mental retardation 24 [EXACT] autosomal dominant non-syndromic intellectual disability 24 [EXACT] IDDISBAS [EXACT] intellectual developmental disorder with impaired expressive speech and behavioral abnormalities, with or without seizures [EXACT] MRD24 [EXACT] VSVS [EXACT] |
| Parent Relationships |