| 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 ) |