Congenital fiber-type disproportion myopathy

Orpha code: 2020OMIM code: 617760

Definition

A rare genetic, congenital, non-dystrophic myopathy characterized by neonatal or infantile-onset hypotonia and mild to severe generalized muscle weakness.

Disease data
Classification

Disease

Synonyms
CFTDM
CFTDM
ORPHA code
2020
OMIM code
617760
ICD10 code
G71.2
ICD11 code
8C72.1

No additional description.

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