Mutation Details

DNA change	Protein change	Exon/intron	Type	Reported classification	Bateman	SIFT	PolyPhen	Conserved	Protein domain	Remarks	LOVD ID
c.870C>A	p.Tyr290X	Exon 8	Nonsense	Disease-causing	n.a.	n.a.	n.a.	n.a.	Ig 3	De novo in family 2?

Patients

Family	# Affected relatives	Clinical features	Remarks	Reference
1	>1	Hydrocephalus, Spastic paraplegia	> 8 yrs	Kanemura et al (2006)
2	1	Hydrocephalus, Spastic paraplegia		Kanemura et al (2006)

Year	Author	Title	Journal	Volume	Pages	Weblink
2006	Kanemura et al	Molecular mechanisms and neuroimaging criteria for severe L1 syndrome with X-linked hydrocephalus	J Neurosurg: Pediatrics	105	403-412	17328266