autosomal dominant intellectual developmental disorder 43

Term ID

DOID:0070073

Synonyms

• autosomal dominant mental retardation 43
• autosomal dominant non-syndromic intellectual disability 43
• MRD43

Definition

An autosomal dominant intellectual developmental disorder characterized by delayed psychomotor development with impaired intellectual development and poor speech, hypotonia, and nonspecific dysmorphic features that has_material_basis_in an autosomal dominant mutation of the HIVEP2 gene on chromosome 6q24.2. (2)

References

• MIM:616977

Ontology

Human Disease   ( DOID:0070073 )