Facioscapulohumeral muscular dystrophy 1

MONDO:0008030

Any facioscapulohumeral muscular dystrophy associated with contraction of the D4Z4 macrosatellite repeat in the subtelomeric region of chromosome 4q35.

Also known as: FSHD, FSHD1, FSHD1A, Landouzy-Dejerine muscular dystrophy, facioscapulohumeral muscular dystrophy 1, facioscapulohumeral muscular dystrophy 1A, facioscapulohumeral muscular dystrophy type 1, muscular dystrophy, facioscapulohumeral, type 1A

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