Term Name: intellectual developmental disorder with ocular anomalies and distinctive facial features
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 )

Relationships
is a type of: syndromic intellectual disability