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autosomal recessive limb-girdle muscular dystrophy type 2T

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description 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.
Uniprot Description An autosomal recessive form of muscular dystrophy characterized by mild proximal muscle weakness with onset in early childhood. Some patients may have additional features, such as mild intellectual disability or seizures.
Disease Ontology Description An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the GMPPB gene encoding the beta subunit of GDP-mannose pyrophosphorylase on chromosome 3p21.
Mondo Term and Equivalent IDs
MONDO:0014142:  autosomal recessive limb-girdle muscular dystrophy type 2T
GARD:0012544: 
Orphanet:363623: 
UMLS:C3714932: