neurodevelopmental disorder with intellectual, visual, and language impairment

Term ID

DOID:0081466

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. https://pubmed.ncbi.nlm.nih.gov/37451268/

References

• MIM:621635

Ontology

Human Disease   ( DOID:0081466 )