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DO Term : Vulto-van Silfout-de Vries syndrome [DOID:0070054] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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:
  • intellectual developmental disorder with impaired expressive speech and behavioral abnormalities, with or without seizures,
  • OMIM:615828,
  • VSVS,
  • autosomal dominant non-syndromic intellectual disability 24,
  • autosomal dominant mental retardation 24,
  • MRD24,
  • 615828,
  • IDDISBAS
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