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  • The following terms were not found in MedGen: equalsstest8, <bj, dbl.
1.

Autosomal recessive limb-girdle muscular dystrophy type 2O

MDDGC3 is a rare form of autosomal recessive limb-girdle muscular dystrophy with normal cognition (Clement et al., 2008). It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as 'dystroglycanopathies' (Godfrey et al., 2007). For a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type C, see MDDGC1 (609308). [from OMIM]

MedGen UID:
461767
Concept ID:
C3150417
Disease or Syndrome
2.

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

MDDGB3 is an autosomal recessive congenital muscular dystrophy with impaired intellectual development and mild brain abnormalities (Clement et al., 2008). It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as 'dystroglycanopathies' (Mercuri et al., 2009). For a discussion of genetic heterogeneity of congenital muscular dystrophy-dystroglycanopathy type B, see MDDGB1 (613155). [from OMIM]

MedGen UID:
461762
Concept ID:
C3150412
Disease or Syndrome

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