Mutation Details

DNA change	Protein change	Exon/intron	Type	Reported classification	Bateman	SIFT	PolyPhen	Conserved	Protein domain	Remarks	LOVD ID
c.719C>T	p.Pro240Leu	Exon 7	Missense	Disease-causing	Key residue	Not tolerated	Probably damaging	Highly	Ig 3

Patients

Family	# Affected relatives	Clinical features	Remarks	Reference
1	4	Adducted thumbs, Hydrocephalus, Mental retardation, Spastic paraplegia	Died before the age of 1 yr: 3/4	Gu et al. (1996)
2	2	(Dys)agenesis corpus callosum, Hirschsprung's disease	ACC: 2/2, HSCR 1/2, Limb abnormalities 1/2	Basel-Vanagaite et al. (2006)

Year	Author	Title	Journal	Volume	Pages	Weblink
2006	Basel-Vanagaite et al.	Expanding the phenotypic spectrum of L1CAM-associated disease	Clin Genet	69	414-419	16650080
1996	Gu et al.	Five novel mutations in the L1CAM gene in families with X linked hydrocephalus	J. Med. Genet.	33	103-106	8929944
2000	Kenwrick et al.	Neural cell recognition molecule L1: relating biological complexity to human disease mutations	Hum. Mol. Genet.	9	879-886	10767310