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VACTERL-H

MIM.276950

VATER association with hydrocephaly, VACTERL association with hydrocephaly

 

The VACTERL-H association is a rare expanded form of the VATER association that includes cardiac defects, limb defects, and hydrocephalus.

Types

-  autosomal recessive VACTERL-hydrocephaly syndrome (David-O'Callaghan syndrome) (MIM.276950) (PTEN mutations)
-  X-linked recessive VACTERL-hydrocephaly syndrome (Hunter-MacMurray syndrome) (MIM.314390) (#9508070#)

Synopsis

-  VACTERL association

-  hydrocephalus (VACTERL-H)

Etiology

-  PTEN mutations in autosomal recessive VACTERL-hydrocephaly syndrome (VACTERL-H syndrome)



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