congenital myopathy, Paradas type
Paradas type congenital myopathy is an early-onset form of dysferlinopathy presenting with postnatal hypotonia, weakness in the proximal lower limbs and neck flexor muscles at birth and delayed motor development.
MONDO:0016145
neuromuscular disease caused by qualitative or quantitative defects of dysferlin
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MONDO:0019950
congenital muscular dystrophy
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