Mutation Details

DNA change	Protein change	Exon/intron	Type	Reported classification	Bateman	SIFT	PolyPhen	Conserved	Protein domain	Remarks	LOVD ID
c.2999delG	p.Gly1000AlafsX111	Exon 22	Deletion; frameshift	Disease-causing	n.a.	n.a.	n.a.	n.a.	Fn 4

Patients

Family	# Affected relatives	Clinical features	Remarks	Reference
1	Unknown	Unknown		Okamoto et al. (1996)

Year	Author	Title	Journal	Volume	Pages	Weblink
1996	Okamoto et al.	A novel mutation in L1CAM gene in a Japanese patient with X-linked hydrocephalus	Jpn J Hum Genet	41	431-437	9088116