autosomal dominant intellectual developmental disorder 50

Term ID

DOID:0080233

Synonyms

• autosomal dominant intellectual developmental disorder-50 with behavioral abnormalities
• autosomal dominant mental retardation 50

Definition

An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the NAA15 gene on chromosome 4q31. https://pubmed.ncbi.nlm.nih.gov/28191889/

References

• OMIM:617787

Ontology

Human Disease   ( DOID:0080233 )