Mutation Details

DNA change	Protein change	Exon/intron	Type	Reported classification	Bateman	SIFT	PolyPhen	Conserved	Protein domain	Remarks	LOVD ID
c.1373T>A	p.Val458Asp	Exon 11	Missense	Disease-causing	Key residue	Not tolerated	Probably damaging	Moderately	Ig 5

Patients

Family	# Affected relatives	Clinical features	Remarks	Reference
1	>1	Hydrocephalus, ?	Terminated pregnancy	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