autosomal recessive limb-girdle muscular dystrophy type 2T
Findings
No curated finding names autosomal recessive limb-girdle muscular dystrophy type 2T 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 2T (LGMD2T) is a form of limb-girdle muscular dystrophy, that can present from birth to early childhood, characterized by hypotonia, microcephaly, mild proximal muscle weakness (leading to delayed walking and difficulty climbing stairs), mild intellectual disability and epilepsy. Additional manifestations reported in some patients include cataracts, nystagmus, cardiomyopathy, and respiratory insufficiency.
Definition from the Mondo Disease Ontology (MONDO:0014142), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Childhood onset
HPO, annotations 2026-09-02
Features
29 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
- 3 of 3 reported patients
- Frequent (30% to 79% of cases)
- Hypoglycosylation of alpha-dystroglycanHPOHP:0030046
- 1 of 1 reported patient
- Limb-girdle muscle weaknessHPOHP:0003325
- 3 of 3 reported patients
- MicrocephalyHPOHP:0000252
- 2 of 3 reported patients
- Occasional (5% to 29% of cases)
- Mild intellectual disabilityHPOHP:0001256
- 2 of 3 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.
- GMPPBHGNC:22932
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
5 names
Resolves to: autosomal recessive limb-girdle muscular dystrophy type 2T
- Also called
- autosomal recessive limb-girdle muscular dystrophy caused by mutation in GMPPBGMPPB autosomal recessive limb-girdle muscular dystrophyLGMD-GMPPB relatedLGMD2TMDDGC14