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Walker-Warburg Syndrome

More information in Books or onNLM PubMed
Definition: Rare autosomal recessive lissencephaly type 2 associated with congenital MUSCULAR DYSTROPHY and eye anomalies (e.g., RETINAL DETACHMENT; CATARACT; MICROPHTHALMOS). It is often associated with additional brain malformations such as HYDROCEPHALY and cerebellar hypoplasia and is the most severe form of the group of related syndromes (alpha-dystroglycanopathies) with common congenital abnormalities in the brain, eye and muscle development.     
See Also Dystroglycans 		Other names alpha Dystroglycanopathies; Walker Warburg Syndrome; Syndrome, Warburg; Syndrome, Walker-Warburg; Syndrome, Chemke; Muscle-Eye-Brain Diseases; Muscle Eye Brain Disease; MEB (Muscle-Eye-Brain) Syndrome; alpha-Dystroglycanopathies; Warburg Syndrome; Muscular Dystrophy, Congenital, Fukuyama Type; Muscle-Eye-Brain Disease; Fukuyama Type Congenital Muscular Dystrophy; Fukuyama Congenital Muscular Dystrophy; Chemke Syndrome; Cerebromuscular Dystrophy, Fukuyama Type
 
SubstanceCAS Registry & nameCategoriesSource
Muscular dystrophy, congenital, with central nervous system involvement  0   *Walker-Warburg Syndrome.
COD (cerebroocular dysgenesis)  0   *Walker-Warburg Syndrome.
FKRP protein, human  0   *Proteins Walker-Warburg Syndrome. Am J Hum Genet 2001 Dec;69(6):1198-209
FKTN protein, human  0   *Membrane Proteins Walker-Warburg Syndrome. Nature 1998 Jul 23;394(6691):388-92
protein O-mannosyltransferase  EC 2.4.1.109   *Mannosyltransferases Saccharomyces cerevisiae Proteins Walker-Warburg Syndrome. Am J Hum Genet 2002 Nov;71(5):1033-43; Eur J Biochem 1993 Aug 1;215(3):845-9; Yeast 1996 Oct;12(13):1377-84

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Sources: NLM Medical Subject Headings, NIH UMLS, Drugs@FDA, FDA AERS original data copyright United States Government. No endorsement implied. Last modified 6/6/2012
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