Details of Disease
General Information of Disease (ID: DISAC1ZH)
| Disease Name | Congenital muscular dystrophy caused by variation in POMGNT2 | ||||
|---|---|---|---|---|---|
| Synonyms | congenital muscular dystrophy-POMGNT2 related; congenital muscular dystrophy caused by mutation in POMGNT2 | ||||
| Definition | Any congenital muscular dystrophy in which the cause of the disease is a variation in the POMGNT2 gene. | ||||
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