Term Name: congenital myopathy 27
Synonyms:
Definition: A congenital myopathy characterized by exercise intolerance and early fatigue that has_material_basis_in homozygous or compound heterozygous mutation in the PACSIN3 gene on chromosome 11p11.
Ontology: Human Disease [DOID:0061258]   ( DOID:0061258 )

Relationships
is a type of: autosomal recessive disease congenital myopathy