Walker-Warburg syndrome

OMIM:613150
Mode of inheritance:Autosomal recessive
Disease classification:Congenital malformations and chromosomal abnormalities

Mutations

Gene Symbol	POMT2
Reference transcript	NM_013382.5
DNA Change	c.1912C>T
A.A. Change	p.Arg638Stop
Exon/Intron	exon 19
Mutation Type	substitution
Reference	van Reeuwijk J, Janssen M, van den Elzen C, Beltran-Valero de Bernabe D, Sabatelli P, Merlini L, Boon M, Scheffer H, Brockington M, Muntoni F, Huynen MA, Verrips A, Walsh CA, Barth PG, Brunner HG, van Bokhoven H.POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome. J Med Genet. 2005 Dec;42(12):907-12.

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