/muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2

muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2

Rare Disease

MONDO:0013154

Also Known As

MDDGA2Walker-Warburg syndrome or muscle-eye-brain disease, Pomt2-relatedmuscle-eye-brain-POMT2 relatedmuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 2muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2

Definition

An autosomal recessive muscular dystrophy caused by mutations in the POMT2 gene. It is associated with characteristic brain and eye malformations and profound mental retardation.

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Associated Genes

POMT2 ↗

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

External Resources

OMIM

OMIM:613150 ↗

GARD

GARD:15624 ↗

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