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Human Disease

congenital myopathy 9B

Term ID
DOID:0081344
Synonyms
Definition
A congenital myopathy that is neonatal hypotonia followed by mildly delayed walking in childhood, mainly affecting proximal muscles, and that has_material_basis_in homozygous mutation in the FXR1 gene on chromosome 3q28. Biallelic mutation in the FXR1 gene also causes CMYP9A. https://pubmed.ncbi.nlm.nih.gov/30770808/
References
Ontology
Human Disease   ( DOID:0081344 )
Relationships
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Genes Involved
Zebrafish Models