Term Name: neurodevelopmental disorder with intellectual, visual, and language impairment
Synonyms:
Definition: An autosomal dominant intellectual developmental disorder that is characterized by these cardinal features as well as motor delay, seizures, microcephaly, and dysmorphic features and that has_material_basis_in heterozygous mutation in the PIP5K1C gene on chromosome 19p13.
Ontology: Human Disease [DOID:0081466]   ( DOID:0081466 )

Relationships
is a type of: autosomal dominant intellectual developmental disorder