Visualize Submit Comment

Metadata
ID	DOID:0081301
Name	intellectual developmental disorder with ocular anomalies and distinctive facial features
Definition	A syndromic intellectual disability that is characterized by global developmental delay, mildly impaired intellectual development, ophthalmologic anomalies, microcephaly or relative microcephaly, hearing loss, and characteristic facial features, and that has_material_basis_in heterozygous mutation in the MTSS2 gene on chromosome 16q22. https://pubmed.ncbi.nlm.nih.gov/36067766/
Xrefs	MIM:620086
Synonyms	IDDOF [EXACT] MTSS2-related neurodevelopmental disorder [EXACT]
Parent Relationships	is_a syndromic intellectual disability