Mutation Details

DNA change	Protein change	Exon/intron	Type	Reported classification	Bateman	SIFT	PolyPhen	Conserved	Protein domain	Remarks	LOVD ID
c.2974C>T	p.Gln992X	Exon 22	Nonsense	Disease-causing	n.a.	n.a.	n.a.	n.a.	Fn 4

Patients

Family	# Affected relatives	Clinical features	Remarks	Reference
1	2	(Dys)agenesis corpus callosum, Adducted thumbs, Aphasia, Hirschsprung's disease, Hydrocephalus, Mental retardation, Spastic paraplegia	Index case > 14 yrs	Okamoto et al. (2004)

Year	Author	Title	Journal	Volume	Pages	Weblink
2004	Okamoto et al.	Hydrocephalus and Hirschsprung's disease with a mutation of L1CAM	J Hum Genet	49	334-337	15148591