Reference details

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

Mutations mentioned in reference

Protein Domain	Exon/Intron	DNA Change	Protein Change	Type	Reported Classification	Details	LOVD ID
Fn 4	Exon 22	c.2999delG	p.Gly1000AlafsX111	Deletion; frameshift	Disease-causing	Details

Family	# Affected relatives	DNA change	Protein change	Exon/Intron	Clinical features	Remarks
1	Unknown	c.2999delG	p.Gly1000AlafsX111	Exon 22	Unknown