Limb-girdle muscular dystrophy 2M, POMGnT1 gene mutation

Preferred Label : Limb-girdle muscular dystrophy 2M, POMGnT1 gene mutation;

ICD-11 definition : Limb-girdle muscular dystrophy-2M (LGMD2M) is caused by a homozygous POMGnT1 missense mutation. It is characterized by onset is in the second decade, severe myopia, normal intellect, and decreased alpha-dystroglycan immunolabeling in skeletal muscle.;

ICD-11 synonym : limb-girdle muscular dystrophy 2M; LGMD2M - [limb-girdle muscular dystrophy 2M];

ICD-11 acronym : LGMD2M;

Details

Origin ID

1187309098;

Automatic exact mappings (from CISMeF team)
- fukutin [ORDO Gene]
Currated CISMeF NLP mapping
- Autosomal recessive limb girdle muscular dystrophy type 2M (disorder) [SNOMED CT concept]
- Fukutin-related limb-girdle muscular dystrophy R13 [ORDO Disease]
- Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 [OMIM Phenotype]
- autosomal recessive limb-girdle muscular dystrophy type 2M [DO Concept]
- muscular dystrophy, Limb-Girdle, type 2M [MeSH Supplementary Concept]

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