Mutation Details

DNA change	Protein change	Exon/intron	Type	Reported classification	Bateman	SIFT	PolyPhen	Conserved	Protein domain	Remarks	LOVD ID
c.74A>T	p.Glu25Val	Exon 1	Missense	Disease-causing	n.a.	Not tolerated	Possibly damaging	Moderately	Sign.pept.	Predicted RNA Splicing defect

Patients

Family	# Affected relatives	Clinical features	Remarks	Reference
1	Family history positive	Unknown		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