Version: 8.0.0
Date: Tue Jan 28 2025
intellectual disability and myopathy syndrome
DOID:0070600
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

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.
Synonyms
  • ABCC9-related intellectual disability and myopathy
  • AIMS
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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      Associated Models

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