autosomal recessive limb-girdle muscular dystrophy type 2S

Term ID

DOID:0110287

Synonyms

• LGMD2S
• muscular dystrophy, limb-girdle, type 2S

Definition

An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the TRAPPC11 gene on chromosome 4q35. https://www.ncbi.nlm.nih.gov/pubmed/23830518

References

• ICD10CM:G71.0
• OMIM:615356
• ORDO:369840

Ontology

Human Disease   ( DOID:0110287 )