Term Name: autosomal dominant intellectual developmental disorder 60 with seizures
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.
Ontology: Human Disease [DOID:0061050]   ( DOID:0061050 )

Relationships
is a type of: autosomal dominant intellectual developmental disorder