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Human Disease
intellectual disability and myopathy syndrome
- Term ID
- DOID:0070600
- 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. (2)
- References
- Ontology
- Human Disease ( DOID:0070600 )
- is a type of
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Genes Involved
| Human Gene | Zebrafish Ortholog | OMIM Term | Disease | OMIM Phenotype ID |
|---|---|---|---|---|
| ABCC9 | Intellectual disability and myopathy syndrome | intellectual disability and myopathy syndrome | 619719 |
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Zebrafish Models