Amish, Mennonite, and Hutterite
Genetic Disorder Database

Walker-Warburg Syndrome

Disorder
OMIM #: #236670  (Click to access OMIM database)
Disorder: Walker-Warburg Syndrome 
Also known as: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY 
Clinical
Phenotype: hydrocephalus, Dandy-Walker malformation, myopathy, eye anomaly, posterior embryotoxin, poorly differentiated pale retina, 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Old Order Mennonite  
Gene: POMT1
Base Change: c.1261_1262delCT
Amino Acid Change: p.Leu421Glufs*12
Last updated: 2018-12-11 

References
Bouchet C, Gonzales M, Vuillaumier-Barrot S, Devisme L, Lebizec C, Alanio E, Bazin A. (2007) Molecular Heterogeneity in Fetal Forms of Type II Lissencephaly. Hum Mutat Oct;28(10):1020-7.
PubMed ID: 17559086 

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