Mutation Details

DNA change	Protein change	Exon/intron	Type	Reported classification	Bateman	SIFT	PolyPhen	Conserved	Protein domain	Remarks	LOVD ID
c.2308G>A	p.Asp770Asn	Exon 18	Missense	Disease-causing	Surface site	Tolerated	Benign	Moderately	Fn 2	Mild form due to missense mutation?

Patients

Family	# Affected relatives	Clinical features	Remarks	Reference
1	1	(Dys)agenesis corpus callosum, Adducted thumbs, Mental retardation, Spastic paraplegia	Microcephaly. Index > 20 yrs	Simonati et al. (2006)
2	1	(Dys)agenesis corpus callosum, Adducted thumbs, Hydrocephalus, Mental retardation, Spastic paraplegia	> 12 years	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
2006	Simonati et al.	A novel missense mutation in the L1CAM gene in a boy with L1 disease	Neurol Sci	27	114-117	16816908