muscular dystrophy, limb-girdle, autosomal recessive 29
MONDO:0971171Mondo
Findings
No curated finding names muscular dystrophy, limb-girdle, autosomal recessive 29 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
- Congenital onset · Infantile onset · Juvenile onset · Childhood onset
HPO, annotations 2026-09-02
Features
41 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.
- Abnormal muscle fiber morphologyHPOHP:0004303
- 1 of 1 reported patient
- Abnormal Z disk morphologyHPOHP:0020202
- 3 of 3 reported patients
- Accumulation of muscle fiber myotilinHPOHP:0030227
- 3 of 3 reported patients
- AreflexiaHPOHP:0001284
- 2 of 2 reported patients
- Decreased fetal movementHPOHP:0001558
- 1 of 1 reported patient
- Difficulty climbing stairsHPOHP:0003551
- 10 of 10 reported patients
- Difficulty runningHPOHP:0009046
- 1 of 1 reported patient
- Elbow contractureHPOHP:0034391
- 1 of 1 reported patient
- EMG: myopathic abnormalitiesHPOHP:0003458
- 12 of 12 reported patients
- Hand muscle weaknessHPOHP:0030237
- 1 of 1 reported patient
- Increased endomysial connective tissueHPOHP:0100297
- 9 of 9 reported patients
- Joint contractureHPOHP:0034392
- 4 of 4 reported patients
Show the remaining 29
- Proximal lower limb muscle weaknessHPOHP:0008994
- 23 of 23 reported patients
- Proximal upper limb muscle weaknessHPOHP:0008997
- 23 of 23 reported patients
- Restrictive ventilatory defectHPOHP:0002091
- 5 of 5 reported patients
- Sensorineural hearing impairmentHPOHP:0000407
- 1 of 1 reported patient
- Unsteady gaitHPOHP:0002317
- 7 of 7 reported patients
- Distal lower limb muscle weaknessHPOHP:0009053
- 21 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.
- SNUPNHGNC:14245
- Definitive · Ambry Genetics · Autosomal recessive · 2024
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Strong · G2P · Autosomal recessive · 2026