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Human Disease

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
Ontology
Human Disease   ( DOID:0081301 )
Relationships
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Genes Involved
Zebrafish Models