Mutation Details

DNA change	Protein change	Exon/intron	Type	Reported classification	Bateman	SIFT	PolyPhen	Conserved	Protein domain	Remarks	LOVD ID
c.1267+4A>T	p.Leu376_Gln423del	Intron 10	Splice site	Disease-causing	n.a.	n.a.	n.a.	n.a.	Ig 4	Exon 10 skipping has been proven by cDNA sequencing

Patients

Family	# Affected relatives	Clinical features	Remarks	Reference
1	3	Adducted thumbs, Hydrocephalus, Mental retardation, Spastic paraplegia	Index case died before the age of 1 yr.	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