intellectual developmental disorder with ocular anomalies and distinctive facial features

Term ID

DOID:0081301

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. https://pubmed.ncbi.nlm.nih.gov/36067766/

References

• OMIM:620086

Ontology

Human Disease   ( DOID:0081301 )