Mutation Details

DNA change	Protein change	Exon/intron	Type	Reported classification	Bateman	SIFT	PolyPhen	Conserved	Protein domain	Remarks	LOVD ID
c.3458-1G>C	p.?	Intron 25	Splice site	Disease-causing	n.a.	n.a.	n.a.	n.a.	n.a.

Patients

Family	# Affected relatives	Clinical features	Remarks	Reference
1	3	Adducted thumbs, Hydrocephalus, Hypotonia		Rehnberg et al. (2010)

Year	Author	Title	Journal	Volume	Pages	Weblink
2010	Rehnberg et al.	Novel L1CAM Splice Site Mutation in a young Male with L1 syndrome	Am J med Genet A	155	439-441	21182018