Vulto-van Silfout-de Vries syndrome

Term ID

DOID:0070054

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

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. (2)

References

• OMIM:615828

Ontology

Human Disease   ( DOID:0070054 )