Mutation Details

DNA change	Protein change	Exon/intron	Type	Reported classification	Bateman	SIFT	PolyPhen	Conserved	Protein domain	Remarks	LOVD ID
c.1340_1353del14	p.Leu447ArgfsX40	Exon 11	Deletion; frameshift	Disease-causing	n.a.	n.a.	n.a.	n.a.	Ig 5

Patients

Family	# Affected relatives	Clinical features	Remarks	Reference
1	2	(Dys)agenesis corpus callosum, Hydrocephalus	Two brothers: >7 yrs and > 5,5 yrs	Graf et al. (2000)

Year	Author	Title	Journal	Volume	Pages	Weblink
2000	Graf et al.	Diffusion-weighted magnetic resonance imaging in boys with neural cell adhesion molecule L1 mutations and congenital hydrocephalus	Ann. Neurol.	47	113-117	10632110