Mutation Details

DNA change	Protein change	Exon/intron	Type	Reported classification	Bateman	SIFT	PolyPhen	Conserved	Protein domain	Remarks	LOVD ID
c.523+12C>T	none	Intron 5	Intronic variation	Non disease-causing	n.a.	n.a.	n.a.	n.a.	n.a.	No evidence found for aberrant splicing (RT PCR experiments)

Patients

Family	# Affected relatives	Clinical features	Remarks	Reference
1	Unknown	Adducted thumbs, Hydrocephalus		Finckh et al. (2000)
2	Unknown	Adducted thumbs, Hydrocephalus		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