Mutation Details

DNA change	Protein change	Exon/intron	Type	Reported classification	Bateman	SIFT	PolyPhen	Conserved	Protein domain	Remarks	LOVD ID
c.2421_2422delTG	p.Gly808ArgfsX9	Exon 18	Deletion; frameshift	Disease-causing	n.a.	n.a.	n.a.	n.a.	Fn 2

Patients

Family	# Affected relatives	Clinical features	Remarks	Reference
1	1	(Dys)agenesis corpus callosum, Adducted thumbs, Hirschsprung's disease, Hydrocephalus, Mental retardation, Spastic paraplegia	> 3 yr	Okamoto et al. (1997a)

Year	Author	Title	Journal	Volume	Pages	Weblink
1997a	Okamoto et al.	Hydrocephalus and Hirschprung's disease in a patient with a mutation of L1CAM	J. Med. Genet.	34	670-671	15148591