autosomal recessive limb-girdle muscular dystrophy type R18
Findings
No curated finding names autosomal recessive limb-girdle muscular dystrophy type R18 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A form of limb-girdle muscular dystrophy characterized by childhood-onset of progressive proximal muscle weakness (leading to reduced ambulation) with myalgia and fatigue, in addition to infantile hyperkinetic movements, truncal ataxia, and intellectual disability. Additional manifestations include scoliosis, hip dysplasia, and less commonly, ocular features (e.g. myopia, cataract) and seizures.
Definition from the Mondo Disease Ontology (MONDO:0014144), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
32 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.
- Elevated circulating creatine kinase activityHPOHP:0003236
- 8 of 8 reported patients
- Limb-girdle muscular dystrophyHPOHP:0006785
- 8 of 8 reported patients
- Frequent (30% to 79% of cases)
- Intellectual disabilityHPOHP:0001249
- 6 of 8 reported patients
- ChoreaHPOHP:0002072
- 5 of 8 reported patients
- Occasional (5% to 29% of cases)
- Truncal ataxiaHPOHP:0002078
- 5 of 8 reported patients
- Occasional (5% to 29% of cases)
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.
- TRAPPC11HGNC:25751
- Definitive · Myriad Women's Health · Autosomal recessive · 2019
- Definitive · G2P · Autosomal recessive · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · Laboratory for Molecular Medicine · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
6 names
Resolves to: autosomal recessive limb-girdle muscular dystrophy type R18
- Also called
- autosomal recessive limb-girdle muscular dystrophy caused by mutation in TRAPPC11autosomal recessive limb-girdle muscular dystrophy type 2SLGMD2Smuscular dystrophy, limb-girdle, autosomal recessive 18muscular dystrophy, limb-girdle, type 2STRAPPC11 autosomal recessive limb-girdle muscular dystrophy