autosomal recessive limb-girdle muscular dystrophy type 2O
Findings
No curated finding names autosomal recessive limb-girdle muscular dystrophy type 2O yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Autosomal recessive limb-girdle muscular dystrophy type 2O (LGMD2O) is a form of limb-girdle muscular dystrophy characterized by an onset in childhood or adolescence of rapidly progressive proximal limb muscle weakness (particularly affecting the neck, hip girdle, and shoulder abductors), hypertrophy in the calves and quadriceps, ankle contractures, and myopia.
Definition from the Mondo Disease Ontology (MONDO:0013161), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset · Progressive
HPO, annotations 2026-09-02
Features
9 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.
- Calf muscle hypertrophyHPOHP:0008981
- 1 of 1 reported patient
- Elevated circulating creatine kinase activityHPOHP:0003236
- 1 of 1 reported patient
- Gowers signHPOHP:0003391
- 1 of 1 reported patient
- High myopiaHPOHP:0011003
- 1 of 1 reported patient
- HyperlordosisHPOHP:0003307
- 1 of 1 reported patient
- Increased endomysial connective tissueHPOHP:0100297
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.
- POMGNT1HGNC:19139
- Definitive · G2P · Autosomal recessive · 2015
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Ambry Genetics · Autosomal recessive · 2018
Where it sits
Other names
5 names
Resolves to: autosomal recessive limb-girdle muscular dystrophy type 2O
- Also called
- autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMGNT1LGMD-POMGNT1 relatedLGMD2OMDDGC3POMGNT1 autosomal recessive limb-girdle muscular dystrophy