Reference details

Author	Year	Journal	Pages	Volume	Title	Weblink
Marx et al	2012	Neurogenetics	49-59	13	Pathomechanistic characterization of two exonic L1CAM variants located in trans in an obligate carrier of X-linked hydrocephalus	22222883

Mutations mentioned in reference

Protein Domain	Exon/Intron	DNA Change	Protein Change	Type	Reported Classification	Details	LOVD ID
Fn 1	Exon 15	c.1905G>C	p.Trp635Cys	Missense	Disease-causing	Details

Family	# Affected relatives	DNA change	Protein change	Exon/Intron	Clinical features	Remarks
1	3	c.1905G>C	p.Trp635Cys	Exon 15	Adducted thumbs, Hydrocephalus	Passed away, in utero, 1 and 2 months of age