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neurodevelopmental disorder with intellectual, visual, and language impairment (DOID:0081466)
Alliance: disease page
Alt IDs: OMIM:621635
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
07/14/2026
MGI 6.24 		The Jackson Laboratory