Any myopathy in which the cause of the disease is a variation in the POMGNT1 gene.
Comprehensive, easy-to-understand information about this condition
Checking for content...
No external resources available.
polymicrogyria
MONDO:0000087
congenital myasthenic syndrome with tubular aggregates
MONDO:0000182
polyglucosan body myopathy
MONDO:0000192
prenatal-onset spinal muscular atrophy with congenital bone fractures
MONDO:0000209
anencephaly
MONDO:0000819
cerebral cavernous malformation
MONDO:0000820