Disease #01109 (LGMD2N;MDDGC2 (dystrophy, muscular, limb-girdle, type 2N (LGMD-2N, dystroglycanopathy C2 (MDDGC-2))), OMIM:613158)

Official abbreviation LGMD2N;MDDGC2
Name dystrophy, muscular, limb-girdle, type 2N (LGMD-2N, dystroglycanopathy C2 (MDDGC-2))
OMIM ID 613158
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene POMT2
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Individuals

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00361915 Pat3 PubMed: Saat 2021 - F yes Turkey - - 0 - - LGMD2N;MDDGC2 Muscle weakness HP:0001324 Hypotonia HP:0001252 - POMT2 1 1 Ibrahim Sahin
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