Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Disease ID: disease_node_16364
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| Dbxref | MIM:620086 |
|---|---|
| Subclassof | DOID_0050888 |
| Data Source | DOID |
| Synonyms | IDDOF, MTSS2-related neurodevelopmental disorder |
| Doid Label | intellectual developmental disorder with ocular anomalies and distinctive facial features |
| Doid Description | 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. |
| Disease Node Id | disease_node_16364 |
| Doid Id | DOID_0081301 |
| Label | Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features |
- Outgoing r'ship
SUBCLASS_OFto/from Syndromic Intellectual Disability(ID:disease_node_16360) (Disease)