Visualize Submit Comment

Metadata
ID	DOID:0081343
Name	congenital myopathy 9A
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. https://pubmed.ncbi.nlm.nih.gov/30770808/
Xrefs	MIM:618822
Parent Relationships	is_a congenital myopathy is_a autosomal recessive disease
Subclass Logical Relationships	has material basis in some autosomal recessive inheritance