/muscular dystrophy-dystroglycanopathy, type A

/muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12

muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12

Rare Disease

MONDO:0014101

Also Known As

POMK muscular dystrophy-dystroglycanopathy, type Amuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12muscular dystrophy-dystroglycanopathy, type A caused by mutation in POMKMDDGA12Walker-Warburg syndrome or muscle-eye-brain disease, POMK-relatedmuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12

Definition

Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the POMK gene.

Patient-Friendly Information

Comprehensive, easy-to-understand information about this condition

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Associated Genes

POMK ↗

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:615249 ↗

GARD

GARD:15927 ↗

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