Mutation Details

DNA change	Protein change	Exon/intron	Type	Reported classification	Bateman	SIFT	PolyPhen	Conserved	Protein domain	Remarks	LOVD ID
c.3452_3455del4	p.Tyr1151X	Exon 25	Deletion; frameshift	Disease-causing	n.a.	n.a.	n.a.	n.a.	Cytopl.

Patients

Family	# Affected relatives	Clinical features	Remarks	Reference
1	Unknown	Unknown		Fransen et al. (1997)
2	>2	(Dys)agenesis corpus callosum, Adducted thumbs, Hydrocephalus	Age of oldest mutation carrier in the family: 0 yr	Finckh et al. (2000)

Year	Author	Title	Journal	Volume	Pages	Weblink
2000	Finckh et al.	Spectrum and detection rate of L1CAM mutations in isolated and familial cases with clinically suspected L1-disease	Am. J. Med. Genet.	92	40-46	10797421
1997	Fransen et al.	L1-associated diseases: clinical geneticists divide, molecular geneticists unite	Hum. Mol. Genet.	6	1625-1632	9300653