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Items: 2

1.

Facioscapulohumeral muscular dystrophy 1a

MedGen UID:
320407
Concept ID:
C1834673
Disease or Syndrome
2.

Facioscapulohumeral muscular dystrophy

Facioscapulohumeral muscular dystrophy (FSHD) typically presents before age 20 years with weakness of the facial muscles and the stabilizers of the scapula or the dorsiflexors of the foot. Severity is highly variable. Weakness is slowly progressive and approximately 20% of affected individuals eventually require a wheelchair. Life expectancy is not shortened. [from GeneReviews]

MedGen UID:
65956
Concept ID:
C0238288
Congenital Abnormality; Disease or Syndrome

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