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

The information provided on this page is for informational purposes only. The National Organization for Rare Disorders (NORD) does not endorse the information presented. The content has been gathered in partnership with the MONDO Disease Ontology. Please consult with a healthcare professional for medical advice and treatment.

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Disease Overview

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.

Synonyms

  • 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
  • muscle-eye-brain-POMT1 related
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 1
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1
OMIM

Online Mendelian Inheritance In Man (OMIM) has a summary of published research about this condition and includes references from the medical literature. The summary contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine.

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