Disease #01112

Official abbreviation MDDGB-6
Name dystrophy, muscular, dystroglycanopathy (congenital with or without mental retardation), type B6 (MDDGB-6)
OMIM ID 606612
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 3
Phenotype entries for this disease 3
Associated with 1 gene FKRP
Associated tissues -
Disease features -
Remarks -


Individuals

3 entries on 1 page. Showing entries 1 - 3.
Legend  

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     
00080940 - Trujillano et al., submitted unaffected parents - - - - - 0 - - MDDGB-6 Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 (OMIM:606612) FKRP FKRP 1 1 Daniel Trujillano
00080944 - Trujillano et al., submitted unaffected parents - - - - - 0 - - MDDGB-6 Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 (OMIM:606612) FKRP FKRP 1 1 Daniel Trujillano
00081047 - Trujillano et al., submitted unaffected parents - - - - - 0 - - MDDGB-6 Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 (OMIM:606612) FKRP FKRP 1 1 Daniel Trujillano
Legend