Term Name: | intellectual developmental disorder with ocular anomalies and distinctive facial features |
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Synonyms: | IDDOF, MTSS2-related neurodevelopmental disorder |
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. |
Ontology: | Human Disease [DOID:0081301] ( DOID:0081301 ) |