Term Name: intellectual disability and myopathy syndrome
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 )

Relationships
is a type of: syndrome