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GTR Home > Conditions/Phenotypes > Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15

Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15

Synonyms
MUSCULAR DYSTROPHY, CONGENITAL, DPM3-RELATED

Summary

Congenital muscular dystrophy-dystroglycanopathy with impaired intellectual development (MDDGB15) is characterized by elevated serum creatine kinase, developmental delay, epilepsy, impaired intellectual development, and brain abnormalities (Fu et al., 2019). For a discussion of genetic heterogeneity of congenital muscular dystrophy-dystroglycanopathy type B, see MDDGB1 (613155). [from OMIM]

Available tests

14 tests are in the database for this condition.

Clinical tests (14 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CDG1O, MDDGB15, MDDGC15, DPM3
    Summary: dolichyl-phosphate mannosyltransferase subunit 3, regulatory

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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