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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

35 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (35 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

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Imported from Human Phenotype Ontology (HPO)

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