Term Name: | congenital myopathy 9A |
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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 ) |