Mutation Details

DNA change	Protein change	Exon/intron	Type	Reported classification	Bateman	SIFT	PolyPhen	Conserved	Protein domain	Remarks	LOVD ID
c.196C>T	p.Gln66X	Exon 3	Nonsense	Disease-causing	n.a.	n.a.	n.a.	n.a.	Ig 1

Patients

Family	# Affected relatives	Clinical features	Remarks	Reference
1	2	(Dys)agenesis corpus callosum, Adducted thumbs, Hydrocephalus, Hypotonia, Mental retardation, Spastic paraplegia	Patient 1: > 6 yrs	Rodriguez et al. (2003)

Year	Author	Title	Journal	Volume	Pages	Weblink
2003	Rodriguez et al.	X-linked hydrocephalus: another two families with an L1 mutation	Genet Couns	14	57-65	12725590