Walker-Warburg syndrome

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Walker-Warburg syndrome2016-11-28T12:48:41+00:00

Walker-Warburg syndrome

NEUROLOGY

An autosomal recessive disorder (OMIM:614643) characterised by muscular dystrophy, cobblestone lissencephaly and other brain defects, eye malformations–e.g., corneal opacification, cataract, persistent primary vitreous, retinal dysplasia, and profound mental retardation. Other anomalies including micropenis, cryptorchidism, hydronephrosis, talipes, and death by age one. 

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye abnormalities)—type A—7 is a spectrum disorder which includes the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease. Not all authors differentiate among the clinical forms.

Molecular pathology Defects of ISPD, which encodes a nucleotidyltransferase involved in synthesising a nucleotide sugar, cause Walker-Warburg syndrome.

Synonyms Cerebro-ocular dysgenesis, muscle-eye-brain disease—ISPD-related, muscular dystrophy-dystroglycanopathy—type A—7, Warburg lissencephaly 

References http://www.uniprot.org/uniprot/A4D126

http://www.omim.org/entry/614643

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