Mutation Details

DNA change	Protein change	Exon/intron	Type	Reported classification	Bateman	SIFT	PolyPhen	Conserved	Protein domain	Remarks	LOVD ID
c.1756C>T	p.Gln586X	Exon 14	Nonsense	Disease-causing	n.a.	n.a.	n.a.	n.a.	Ig 6

Patients

Family	# Affected relatives	Clinical features	Remarks	Reference
1	2	Adducted thumbs, Hydrocephalus, Mental retardation, Spastic paraplegia	Died before the age of 1 yr: 1/2	Jouet et al. (1995a)

Year	Author	Title	Journal	Volume	Pages	Weblink
1995a	Jouet et al.	New domains of neural cell-adhesion molecule L1 implicated in X-linked hydrocephalus and MASA syndrome	Am. J. Hum. Genet.	56	1304-1314	7762552