congenital myopathy 9A

Term ID

DOID:0081343

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. https://pubmed.ncbi.nlm.nih.gov/30770808/

References

• MIM:618822

Ontology

Human Disease   ( DOID:0081343 )