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DOID:0070054 - Vulto-van Silfout-de Vries syndrome
Disease Ontology 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.
Synonyms: autosomal dominant mental retardation 24, autosomal dominant non-syndromic intellectual disability 24, IDDISBAS, intellectual developmental disorder with impaired expressive speech and behavioral abnormalities, with or without seizures, MRD24, VSVS
Xenbase Genes
:
deaf1
| MONDO:0014357 - intellectual disability, autosomal dominant 24 |
| MIM:615828 - VULTO-VAN SILFHOUT-DE VRIES SYNDROME; VSVS |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee