Mutation Details

DNA change	Protein change	Exon/intron	Type	Reported classification	Bateman	SIFT	PolyPhen	Conserved	Protein domain	Remarks	LOVD ID
c.955delG	p.Gly319AlafsX71	Exon 8	Deletion; frameshift	Disease-causing	n.a.	n.a.	n.a.	n.a.	Ig 3

Patients

Family	# Affected relatives	Clinical features	Remarks	Reference
1	2	Hydrocephalus, ?		Gu et al. (1996)

Year	Author	Title	Journal	Volume	Pages	Weblink
1996	Gu et al.	Five novel mutations in the L1CAM gene in families with X linked hydrocephalus	J. Med. Genet.	33	103-106	8929944