intellectual developmental disorder with ocular anomalies and distinctive facial features (DOID:0081301)
Alliance: disease page
Synonyms: IDDOF; MTSS2-related neurodevelopmental disorder
Alt IDs: OMIM:620086
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.