Mutation Details

DNA change	Protein change	Exon/intron	Type	Reported classification	Bateman	SIFT	PolyPhen	Conserved	Protein domain	Remarks	LOVD ID
c.929A>G	p.Tyr310Cys	Exon 8	Missense	Disease-causing	Surface site	Not tolerated			Ig 3

Patients

Family	# Affected relatives	Clinical features	Remarks	Reference
1	4	(Dys)agenesis corpus callosum, Hydrocephalus, Mental retardation, Spastic paraplegia	index case:> 54 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