Term Name: congenital myopathy 9A
Synonyms:
Definition: A congenital myopathy that is characterized by neonatal hypotonia, poor feeding, fractures of the long bones, and respiratory insufficiency and that has_material_basis_in homozygous mutation in the FXR1 gene on chromosome 3q28.
Ontology: Human Disease [DOID:0081343]   ( DOID:0081343 )

Relationships
is a type of: autosomal recessive disease congenital myopathy