myopathy, distal, 7, adult-onset, X-linked
MONDO:0024771Mondo
Findings
No curated finding names myopathy, distal, 7, adult-onset, X-linked yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- X-linked recessive inheritance
- Onset and course
- Middle age onset · Young adult onset
HPO, annotations 2026-09-02
Features
15 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.
- Distal lower limb muscle weaknessHPOHP:0009053
- 10 of 10 reported patients
- Fatty replacement of skeletal muscleHPOHP:0012548
- 7 of 8 reported patients
- Increased variability in muscle fiber diameterHPOHP:0003557
- 5 of 7 reported patients
- Rimmed vacuolesHPOHP:0003805
- 5 of 7 reported patients
- Distal upper limb muscle weaknessHPOHP:0008959
- 7 of 10 reported patients
- Proximal upper limb muscle weaknessHPOHP:0008997
- 6 of 10 reported patients
- Muscle fiber cytoplasmatic inclusion bodiesHPOHP:0100303
- 4 of 7 reported patients
- Scapular wingingHPOHP:0003691
- 5 of 10 reported patients
- Centrally nucleated skeletal muscle fibersHPOHP:0003687
- 3 of 7 reported patients
- Myofiber disarrayHPOHP:0031318
- 3 of 7 reported patients
- Proximal lower limb muscle weaknessHPOHP:0008994
- 3 of 10 reported patients
- CardiomyopathyHPOHP:0001638
- 0 of 9 reported patients
Show the remaining 3
- CataractHPOHP:0000518
- 0 of 10 reported patients
- Hearing impairmentHPOHP:0000365
- 0 of 10 reported patients
- Respiratory insufficiency due to muscle weaknessHPOHP:0002747
- 0 of 10 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SMPXHGNC:11122
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2022
- Strong · PanelApp Australia · X-linked · 2025
Where it sits
- A kind of
Other names
1 name
Resolves to: myopathy, distal, 7, adult-onset, X-linked
- Also called
- MPD7