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 that has_material_basis_in an autosomal dominant mutation of the HIVEP2 gene on chromosome 6q24.2. https://www.ncbi.nlm.nih.gov/pubmed/27003583

References

• OMIM:616977

Ontology

Human Disease   ( DOID:0070073 )