Search Ontology:
Human Disease

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
Ontology
Human Disease   ( DOID:0081343 )
Relationships
is a type of
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Genes Involved
Zebrafish Models