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Metadata
ID DOID:0080102
Name congenital myopathy 4A
Definition A congenital myopathy that is characterized by skeletal muscle weakness, particularly in the muscles of the shoulders, upper arms, hips, and thighs.
https://ghr.nlm.nih.gov/condition/congenital-fiber-type-disproportion
Xrefs

OMIM:255310

Synonyms

CFTD [EXACT]

congenital fiber-type disproportion [EXACT]

Parent Relationships

is_a congenital myopathy

is_a physical disorder

is_a autosomal dominant disease

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