Mondo Description Autosomal recessive limb-girdle muscular dystrophy type 2S (LGMD2S) is 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.
Uniprot Description A form of limb-girdle muscular dystrophy characterized by proximal muscle weakness with childhood onset, resulting in gait abnormalities and scapular winging. Serum creatine kinase is increased. A subset of patients may show a hyperkinetic movement disorder with chorea, ataxia, or dystonia and global developmental delay.
Disease Ontology Description An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the TRAPPC11 gene on chromosome 4q35.
Mondo Term and Equivalent IDs
MONDO:0014144: autosomal recessive limb-girdle muscular dystrophy type 2S
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
This disease has been annotated by GARD as a rare disease.
Description from Mondo Disease Ontology.
Description from UniProt.
Description from Disease Ontology
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0110287
GARD:0012543
OMIM:615356
Orphanet:369840
UMLS:C3809236
MONDO:0014144
High level summary of knowledge for a disease, including descriptions and datasource references.