Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.77-?_591delins41p.?Intron 1DeletionDisease-causingn.a.n.a.n.a.n.a. n.a. Deletion of exons 2, 3, 4, 5, and part of exon 6. De novo by grandmother


Family# Affected relativesClinical featuresRemarksReference
1 1 Adducted thumbs, Hydrocephalus Terminated pregnancy at 24 weeks Panayi et al (2005)


2005Panayi et alPrenatal diagnosis in a family with X-linked hydrocephalus Prenat Diagn 25(10)930-933 16088863