Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 4

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal recessive muscular dystrophy caused by mutations in the gene encoding fukutin (FKTN). It is associated with characteristic brain and eye malformations, seizures, and mental retardation.

**Synonyms:** - MDDGA4