autosomal dominant intellectual developmental disorder 61

Term ID

DOID:0061034

Synonyms

Definition

An autosomal dominant intellectual developmental disorder characterized by global developmental delay apparent in infancy with mildly impaired intellectual development, expressive speech delay, and behavioral abnormalities, including autism spectrum disorder and attention deficit-hyperactivity disorder (ADHD) that has_material_basis_in heterozygous mutation in the MED13 gene on chromosome 17q23. https://pubmed.ncbi.nlm.nih.gov/29740699/

References

• MIM:618009

Ontology

Human Disease   ( DOID:0061034 )