Mutation Details

DNA change	Protein change	Exon/intron	Type	Reported classification	Bateman	SIFT	PolyPhen	Conserved	Protein domain	Remarks	LOVD ID
c.3323-17dupG	none	Intron 24	Intronic variation	Non disease-causing	n.a.	n.a.	n.a.	n.a.	n.a.	Variant also detected in two unaffected uncles of the index case

Patients

Family	# Affected relatives	Clinical features	Remarks	Reference
1	1	Hydrocephalus	Died at the age of 10 months	Hubner et al (2004)

Year	Author	Title	Journal	Volume	Pages	Weblink
2004	Hubner et al	Intronic mutations in the L1CAM gene may cause X-linked hydrocephalus by aberrant splicing	Hum Mutat	23(5)	526	15108295