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Definition

An autosomal recessive disorder characterized by congenital muscular dystrophy, ocular abnormalities, cobblestone lissencephaly, and cerebellar and pontine hypoplasia. Patients present severe congenital myopia, congenital glaucoma, pallor of the optic disks, retinal hypoplasia, mental retardation, hydrocephalus, abnormal electroencephalograms, generalized muscle weakness and myoclonic jerks. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease.

Acronym

MDDGA3

Synonyms

Muscle-eye-brain disease POMGNT1-related
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3
Walker-Warburg syndrome POMGNT1-related

Keywords

Lissencephaly
Congenital muscular dystrophy
Dystroglycanopathy

 
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