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Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect
1 OMIM reference -
1 associated gene
1 connected disease
No signs/symptoms info
Disease Type of connection
Congenital analbuminemia
Synonym(s):
- Congenital megaconial myopathy
- Congenital muscular dystrophy with mitochondrial structural abnormalities
- Megaconial congénital muscular dystrophy
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
CHKB Q9Y259612395
No signs/symptoms info available.