autosomal recessive limb-girdle muscular dystrophy type 2P
Findings
No curated finding names autosomal recessive limb-girdle muscular dystrophy type 2P 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 2P (LGMD2P) is a form of limb-girdle muscular dystrophy characterized by slowly-progressive mainly proximal muscle weakness presenting in early childhood (with difficulties walking and climbing stairs) and mild to severe intellectual disability. Additional manifestations reported include microcephaly, mild increase in thigh or calf muscles, and contractures of the ankles.
Definition from the Mondo Disease Ontology (MONDO:0013440), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
22 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.
- Ankle flexion contractureHPOHP:0006466
- 1 of 1 reported patient
- Occasional (5% to 29% of cases)
- Delayed speech and language developmentHPOHP:0000750
- 1 of 1 reported patient
- Difficulty climbing stairsHPOHP:0003551
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Elevated circulating creatine kinase activityHPOHP:0003236
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Gait disturbanceHPOHP:0001288
- 1 of 1 reported patient
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.
- DAG1HGNC:2666
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
4 names
Resolves to: autosomal recessive limb-girdle muscular dystrophy type 2P
- Also called
- autosomal recessive limb-girdle muscular dystrophy caused by mutation in DAG1DAG1 autosomal recessive limb-girdle muscular dystrophyLGMD2PMDDGC9