Search Ontology:
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 )
- is a type of
-
Other Pages
Genes Involved
Zebrafish Models