Intellectual Disability And Myopathy Syndrome
Disease ID: disease_node_20316
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| Dbxref | MIM:619719 |
|---|---|
| Subclassof | DOID_225 |
| Data Source | DOID |
| Synonyms | ABCC9-related intellectual disability and myopathy, AIMS, IDMYS |
| Doid Label | intellectual disability and myopathy syndrome |
| Doid Description | A syndrome characterized by global developmental delay with mildly impaired intellectual development, hypotonia, muscle weakness and fatigue, and abnormalities in brain white matter that has_material_basis in homozygous or compound heterozygous mutation in the ABCC9 on chromosome 12p12. |
| Disease Node Id | disease_node_20316 |
| Doid Id | DOID_0070600 |
| Label | Intellectual Disability And Myopathy Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease)