Disease #03905 (LGMD2T;MDDGC14 (dystrophy, muscular, limb-girdle, type 2T (LGMD-2T, dystroglycanopathy C14 (MDDGC-14))), OMIM:615352)

Official abbreviation LGMD2T;MDDGC14
Name dystrophy, muscular, limb-girdle, type 2T (LGMD-2T, dystroglycanopathy C14 (MDDGC-14))
OMIM ID 615352
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 2
Phenotype entries for this disease 0
Associated with 1 gene GMPPB
Associated tissues -
Disease features -
Remarks -


Individuals

2 entries on 1 page. Showing entries 1 - 2.
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     
00406626 7 - - F - - - - - - - LGMD2T;MDDGC14 - - GMPPB 2 1 Martin Krenn
00406648 18 - - F - - - - - - - LGMD2T;MDDGC14 - - GMPPB 2 1 Martin Krenn
Legend   How to query