Mutation Details

DNA change	Protein change	Exon/intron	Type	Reported classification	Bateman	SIFT	PolyPhen	Conserved	Protein domain	Remarks	LOVD ID
c.3124C>T	p.Gln1042X	Exon 23	Nonsense	Disease-causing	n.a.	n.a.	n.a.	n.a.	Fn 5

Patients

Family	# Affected relatives	Clinical features	Remarks	Reference
1	2	Adducted thumbs, Hydrocephalus, Mental retardation, Spastic paraplegia	(M) grandmother had a (male) stillbirth infant with HC	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