Reference details

Author	Year	Journal	Pages	Volume	Title	Weblink
Fernandez et al.	2012	Am J Med Genet A	816-820	158A	Association of X-linked Hydrocephalus and Hirschsprung disease: Report af a new patient with a mutation in the L1CAM gene	22344793

Mutations mentioned in reference

Protein Domain	Exon/Intron	DNA Change	Protein Change	Type	Reported Classification	Details	LOVD ID
Fn 1	Exon 16	c.2092G>A	p.Gly698Arg	Missense	Disease-causing	Details

Family	# Affected relatives	DNA change	Protein change	Exon/Intron	Clinical features	Remarks
1	4	c.2092G>A	p.Gly698Arg	Exon 16	(Dys)agenesis corpus callosum, Hirschsprung's disease, Hydrocephalus, Mental retardation, Spastic paraplegia