| Metadata | |
|---|---|
| ID | DOID:0070600 |
| Name | intellectual disability and myopathy syndrome |
| Definition | 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. https://pubmed.ncbi.nlm.nih.gov/31575858/, https://pubmed.ncbi.nlm.nih.gov/38217872/ |
| Xrefs | |
| SKOS |
exactMatch MIM:619719 |
| Synonyms |
ABCC9-related intellectual disability and myopathy [EXACT] AIMS [EXACT] IDMYS [EXACT] |
| Parent Relationships |
is_a syndrome |