Mutation Details

DNA change	Protein change	Exon/intron	Type	Reported classification	Bateman	SIFT	PolyPhen	Conserved	Protein domain	Remarks	LOVD ID
c.1243G>C	p.Ala415Pro	Exon 10	Missense	Disease-causing	Key residue	Not tolerated	Probably damaging	Highly	Ig 4

Patients

Family	# Affected relatives	Clinical features	Remarks	Reference
1	4	(Dys)agenesis corpus callosum, Adducted thumbs, Aphasia, Hydrocephalus, Mental retardation, Spastic paraplegia		Sztriha et al. (2002)

Year	Author	Title	Journal	Volume	Pages	Weblink
2002	Sztriha et al.	X-linked hydrocephalus: a novel missense mutation in the L1CAM gene	Pediatr. Neurol.	27	293-296	12435569