Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
??Intron 21RNA splicing defectDisease-causingn.a.n.a.n.a.n.a. Fn 4 Deletie van exon 21?

Patients

Family# Affected relativesClinical featuresRemarksReference
1 Unknown Unknown   Forrest et al. (1994)

References

YearAuthorTitleJournalVolumePagesWeblink
1994Forrest et al.Mutation detection in X-linked hydrocephalus Am. J. Hum. Genet. 55A219