Reference details

Author	Year	Journal	Pages	Volume	Title	Weblink
Simonati et al.	2006	Neurol Sci	114-117	27	A novel missense mutation in the L1CAM gene in a boy with L1 disease	16816908

Mutations mentioned in reference

Protein Domain	Exon/Intron	DNA Change	Protein Change	Type	Reported Classification	Details	LOVD ID
Fn 2	Exon 18	c.2308G>A	p.Asp770Asn	Missense	Disease-causing	Details

Family	# Affected relatives	DNA change	Protein change	Exon/Intron	Clinical features	Remarks
1	1	c.2308G>A	p.Asp770Asn	Exon 18	(Dys)agenesis corpus callosum, Adducted thumbs, Mental retardation, Spastic paraplegia	Microcephaly. Index > 20 yrs