/muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8

muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8

Rare Disease

MONDO:0013904

Also Known As

POMGNT2 muscular dystrophy-dystroglycanopathy, type Amuscle-eye-brain-POMGNT2 relatedmuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8muscular dystrophy-dystroglycanopathy, type A caused by mutation in POMGNT2MDDGA8Walker-Warburg syndrome or muscle-eye-brain disease, Gtdc2-relatedmuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8

Definition

Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the POMGNT2 gene.

Patient-Friendly Information

Comprehensive, easy-to-understand information about this condition

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Associated Genes

POMGNT2 ↗

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

External Resources

OMIM

OMIM:614830 ↗

GARD

GARD:15846 ↗

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