Mutation Details

DNA change	Protein change	Exon/intron	Type	Reported classification	Bateman	SIFT	PolyPhen	Conserved	Protein domain	Remarks	LOVD ID
c.25T>A	p.Trp9Arg	Exon 1	Missense	Disease-causing	n.a.	Not tolerated	Probably damaging	Moderately	Sign.pept.

Patients

Family	# Affected relatives	Clinical features	Remarks	Reference
1	1	(Dys)agenesis corpus callosum, Adducted thumbs, Hydrocephalus, Mental retardation, Spastic paraplegia	> 3 yrs	Bertolin et al (2010)

Year	Author	Title	Journal	Volume	Pages	Weblink
2010	Bertolin et al	Novel mutations in the L1CAM gene support the complexity of L1 syndrome	J. Neurol Sc	294	124-126	20447653