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Vulto-van Silfout-de Vries syndrome
Summary
- Synonym
-
- IDDISBAS
- MRD24
- VSVS
- autosomal dominant mental retardation 24
- autosomal dominant non-syndromic intellectual disability 24
- intellectual developmental disorder with impaired expressive speech and behavioral abnormalities, with or without seizures
- 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.
- Super Class
- autosomal dominant intellectual developmental disorder
External Links
- Disease Ontology
- DOID:0070054
- Mondo Disease Ontology
- OMIM
