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. https://pubmed.ncbi.nlm.nih.gov/31575858/

References

• MIM:619719

Ontology

Human Disease   ( DOID:0070600 )