Facioscapulohumeral muscular dystrophy 1

rare

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

Identifiers: MONDO:0008030 OMIM:158900
Part of: Facioscapulohumeral muscular dystrophy
Also known as: facioscapulohumeral dystrophy with sensorineural hearing loss and tortuosity of retinal arterioles · facioscapulohumeral dystrophy with sensorineural hearing loss and tortuosity of retinal arterioles, included · facioscapulohumeral muscular dystrophy 1A · facioscapulohumeral muscular dystrophy type 1 · facioscapulohumeral muscular dystrophy, infantile

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