Term Name: | intellectual disability and myopathy syndrome |
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Synonyms: | ABCC9-related intellectual disability and myopathy, AIMS, IDMYS |
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. |
Ontology: | Human Disease [DOID:0070600] ( DOID:0070600 ) |