Disease association ontology term - MONDO:0014142 - autosomal recessive limb-girdle muscular dystrophy type 2T
Term summary
- ID
- MONDO:0014142
- Name
- autosomal recessive limb-girdle muscular dystrophy type 2T
- Ontology or CV name
- Disease association
- 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.
