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
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

1 entry on 1 page. Showing entry 1.
Legend   How to query  

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Genes screened

Variants in genes

Variants     

Panel size     

Owner     
00361915 Pat3 PubMed: Saat 2021 - F yes Turkey - - - - - LGMD2N;MDDGC2 Muscle weakness HP:0001324 Hypotonia HP:0001252 - POMT2 1 1 Ibrahim Sahin
Legend   How to query