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muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description An autosomal recessive muscular dystrophy caused by mutations in the POMGNT1 gene. It is associated with characteristic brain and eye malformations, profound mental retardation, and death usually in the first years of life.
Uniprot Description 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.
Mondo Term and Equivalent IDs
MONDO:0009667:  muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
DOID:0111236: 
NCIT:C126740: 
UMLS:C3151519: