/muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1

muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1

Rare Disease

MONDO:0009364

Also Known As

muscle-eye-brain-POMT1 relatedmuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 1MDDGA1Walker-Warburg syndrome or muscle-eye-brain disease, Pomt1-relatedcerebroocular dysplasia-muscular dystrophy syndromecod-MD syndromehard syndromehydrocephalus, agyria, and retinal dysplasiamuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1

Definition

An autosomal recessive muscular dystrophy caused by mutations in the POMT1 gene, encoding protein O-mannosyl-transferase 1. It is associated with characteristic brain and eye malformations, profound mental retardation, and early death.

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Associated Genes

POMT1 ↗

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

External Resources

OMIM

OMIM:236670 ↗

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