Mutation Details

DNA change	Protein change	Exon/intron	Type	Reported classification	Bateman	SIFT	PolyPhen	Conserved	Protein domain	Remarks	LOVD ID
?	?	Intron 21	RNA splicing defect	Disease-causing	n.a.	n.a.	n.a.	n.a.	Fn 4	Deletie van exon 21?

Patients

Family	# Affected relatives	Clinical features	Remarks	Reference
1	Unknown	Unknown		Forrest et al. (1994)

Year	Author	Title	Journal	Volume	Pages	Weblink
1994	Forrest et al.	Mutation detection in X-linked hydrocephalus	Am. J. Hum. Genet.	55	A219