Facioscapulohumeral Muscular Dystrophy 2

**Semantic type:** Disease or Syndrome

**Definition:** A form of facioscapulohumeral muscular dystrophy with digenic inheritance, caused by a combination of heterozygous mutation in the SMCHD1 gene and the presence of a haplotype that is permissive for DUX4.

**Synonyms:** - FSHD2