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intellectual developmental disorder with ocular anomalies and distinctive facial features
Summary
- Synonym
-
- 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.
- Super Class
- syndromic intellectual disability
External Links
- Disease Ontology
- DOID:0081301
- Mondo Disease Ontology
- OMIM
Related Genes
