Catalog
Congenital muscular dystrophy with central nervous system abnormalities
No MMS code
Link to WHO Definition
Congenital muscular dystrophy with central nervous system abnormalities – http://id.who.int/icd/entity/1945074995
Congenital muscular dystrophies with central nervous system abnormalities are a heterogeneous group of autosomal recessively inherited degenerative muscle disorders associated with cerebral and cerebellar dysplasia and white matter abnormalities.
Parents
Children
- Marinesco-Sjögren syndrome
- Muscle Eye Brain disease
- Walker Warburg syndrome
- Congenital muscular dystrophy Fukuyama type
- Congenital muscular dystrophy with central nervous system abnormalities, not elsewhere classified
- Congenital muscular dystrophy type 1C, fukutin-related protein gene mutation
- Congenital muscular dystrophy type 1D large gene mutation