muscular dystrophy, limb-girdle, autosomal recessive 27
MONDO:0030456Mondo
Findings
No curated finding names muscular dystrophy, limb-girdle, autosomal recessive 27 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Juvenile onset · Progressive · Young adult onset · Childhood onset
HPO, annotations 2026-09-02
Features
26 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.
- Proximal lower limb muscle weaknessHPOHP:0008994
- 23 of 23 reported patients
- Proximal upper limb muscle weaknessHPOHP:0008997
- 23 of 23 reported patients
- Muscular dystrophyHPOHP:0003560
- 12 of 14 reported patients
- EMG: myopathic abnormalitiesHPOHP:0003458
- 16 of 19 reported patients
- Neck muscle weaknessHPOHP:0000467
- 19 of 23 reported patients
- Distal lower limb muscle weaknessHPOHP:0009053
- 18 of 23 reported patients
- Distal upper limb muscle weaknessHPOHP:0008959
- 15 of 23 reported patients
- Reduced forced vital capacityHPOHP:0032341
- 13 of 20 reported patients
- ScoliosisHPOHP:0002650
- 12 of 23 reported patients
- Achilles tendon contractureHPOHP:0001771
- 11 of 23 reported patients
- Elevated circulating creatine kinase activityHPOHP:0003236
- 10 of 22 reported patients
- Loss of ambulationHPOHP:0002505
- 8 of 23 reported patients
Show the remaining 14
- Skeletal muscle atrophyHPOHP:0003202
- 8 of 23 reported patients
- Spinal rigidityHPOHP:0003306
- 7 of 23 reported patients
- Elbow flexion contractureHPOHP:0002987
- 6 of 23 reported patients
- Skeletal muscle hypertrophyHPOHP:0003712
- 6 of 23 reported patients
- Knee flexion contractureHPOHP:0006380
- 4 of 23 reported patients
- PtosisHPOHP:0000508
- 4 of 23 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.
- JAG2HGNC:6189
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · G2P · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
1 name
Resolves to: muscular dystrophy, limb-girdle, autosomal recessive 27
- Also called
- LGMDR27