Term Name: congenital myopathy 21
Synonyms:
Definition: A congenital myopathy that is characterized by diaphragmatic weakness and spinal rigidity and that has_material_basis_in homozygous mutation in the DNAJB4 gene on chromosome 1p31.
Ontology: Human Disease [DOID:0081353]   ( DOID:0081353 )

Relationships
is a type of: autosomal recessive disease congenital myopathy