autosomal dominant intellectual developmental disorder 60 with seizures

Term ID

DOID:0061050

Synonyms

• MRD60

Definition

An autosomal dominant intellectual developmental disorder characterized by global developmental delay apparent in infancy, followed by onset of seizures in the first years of life that has_material_basis_in heterozygous mutation in the AP2M1 gene on chromosome 3q27. https://pubmed.ncbi.nlm.nih.gov/31104773/

References

• MIM:618587

Ontology

Human Disease   ( DOID:0061050 )