limb-girdle muscular dystrophy due to POMK deficiency
Findings
No curated finding names limb-girdle muscular dystrophy due to POMK deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Limb-girdle muscular dystrophy due to POMK deficiency is a form of limb-girdle muscular dystrophy presenting in infancy with muscle weakness and delayed motor development (eventually learning to walk at 18 months of age) followed by progressive proximal weakness, pseudohypertrophy of calf muscles, mild facial weakness, and borderline intelligence.
Definition from the Mondo Disease Ontology (MONDO:0014489), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
11 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.
- Borderline intellectual disabilityHPOHP:0006889
- 2 of 2 reported patients
- Delayed ability to walkHPOHP:0031936
- 2 of 2 reported patients
- Difficulty climbing stairsHPOHP:0003551
- 2 of 2 reported patients
- Elevated circulating creatine kinase activityHPOHP:0003236
- 3 of 3 reported patients
- HyporeflexiaHPOHP:0001265
- 2 of 2 reported patients
- Limb-girdle muscle weaknessHPO
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.
- POMKHGNC:26267
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
1 name
Resolves to: limb-girdle muscular dystrophy due to POMK deficiency
- Also called
- LGMD due to POMK deficiency