Mutation Details

DNA change	Protein change	Exon/intron	Type	Reported classification	Bateman	SIFT	PolyPhen	Conserved	Protein domain	Remarks	LOVD ID
c.1318C>T	p.Gln440X	Exon 11	Nonsense	Disease-causing	n.a.	n.a.	n.a.	n.a.	Ig 5

Patients

Family	# Affected relatives	Clinical features	Remarks	Reference
1	2	Adducted thumbs, Hydrocephalus, Mental retardation, Spastic paraplegia	(M) grandmother had stillborn infant (male) with HC. Fam HC18 in ref.	Gu et al. (1997)

Year	Author	Title	Journal	Volume	Pages	Weblink
1997	Gu et al.	Molecular analysis of the L1CAM gene in patients with X-linked hydrocephalus reveals eight novel mutations and suggests non-allelic genetic heterogeneity of the trait	Am. J. Med. Genet.	71	336-340	9268105