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

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.

Also known as: muscle-eye-brain-POMT1 related, muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 1, MDDGA1, Walker-Warburg syndrome or muscle-eye-brain disease, Pomt1-related, cerebroocular dysplasia-muscular dystrophy syndrome, cod-MD syndrome, hard syndrome, hydrocephalus, agyria, and retinal dysplasia

65 clinical trials for this condition and its sub-types.