Mutation Details

DNA change	Protein change	Exon/intron	Type	Reported classification	Bateman	SIFT	PolyPhen	Conserved	Protein domain	Remarks	LOVD ID
c.1316_1330del15	p.Val439_443Thrdel	Exon 11	Deletion	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	Death <1 yr. Fam H15	MacFarlane et al. (1997)

Year	Author	Title	Journal	Volume	Pages	Weblink
1997	MacFarlane et al.	Nine novel L1CAM mutations in families with X-linked Hydrocephalus	Hum. Mutat.	9	512-518	9195224