facioscapulohumeral muscular dystrophy 2
MONDO:0008031Mondo
Findings
No curated finding names facioscapulohumeral muscular dystrophy 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any facioscapulohumeral muscular dystrophy in which the cause of the disease is a mutation in the SMCHD1 gene.
Definition from the Mondo Disease Ontology (MONDO:0008031), read 2026-09-29. CC BY 4.0.
- Inheritance
- Digenic inheritance
- Onset and course
- Adult onset
HPO, annotations 2026-09-02
Features
7 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Scapular wingingHPOHP:0003691
- 33 of 33 reported patients
- Foot dorsiflexor weaknessHPOHP:0009027
- 26 of 33 reported patients
- Beevor's signHPOHP:0030664
- 12 of 18 reported patients
- Hearing impairmentHPOHP:0000365
- 6 of 33 reported patients
- Facial palsyHPOHP:0010628
- 3 of 33 reported patients
- Pelvic girdle muscle weaknessHPOHP:0003749
- 3 of 33 reported patients
- Scapulohumeral muscular dystrophyHPO
Where it sits
Other names
4 names
Resolves to: facioscapulohumeral muscular dystrophy 2
- Also called
- facioscapulohumeral muscular dystrophy caused by mutation in SMCHD1facioscapulohumeral muscular dystrophy type 2fascioscapulohumeral muscular dystrophy 2, digenic, digenic dominantSMCHD1 facioscapulohumeral muscular dystrophy