U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Limb-girdle muscular dystrophy due to POMK deficiency

Limb-girdle muscular dystrophy due to POMK deficiency

Synonyms
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMK-RELATED; Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 12
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

A form of limb-girdle muscular dystrophy presenting in infancy with muscle weakness and delayed motor development (eventually learning to walk at 18 months of age) followed by progressive proximal weakness, pseudohypertrophy of calf muscles, mild facial weakness and borderline intelligence. [from SNOMEDCT_US]

Available tests

38 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (38 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: MDDGA12, MDDGC12, SGK196, POMK
    Summary: protein O-mannose kinase

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

Show allHide all

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.