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muscle-eye-brain disease

Disease Summary
Associated Targets (14)
Tbio

14


GARD Rare
Mondo Description A rare, congenital muscular dystrophy due to dystroglycanopathy characterized by early onset muscular dystrophy, severe muscular hypotonia, severe mental retardation and typical brain and eye malformations, including pachygyria, polymicrogyria, agyria, brainstem and cerebellar structural anomalies, severe myopia, glaucoma, optic nerve and retinal hypoplasia. Patients may present with seizures, macrocephaly or microcephaly, microphthalmia, and congenital contractures. Depending on the severity, limited motor function is acquired. Less severe cases have been reported.
Mondo Term and Equivalent IDs
MONDO:0018939:  muscle-eye-brain disease
GARD:0000156: 
Orphanet:588: 
SCTID:277950001: