Mutation Details

DNA change	Protein change	Exon/intron	Type	Reported classification	Bateman	SIFT	PolyPhen	Conserved	Protein domain	Remarks	LOVD ID
c.2065G>T	p.Val689Phe	Exon 16	Missense	Disease-causing	Key residue	Not tolerated	Probably damaging	Highly	Fn 1

Patients

Family	# Affected relatives	Clinical features	Remarks	Reference
1	2	Adducted thumbs, Hydrocephalus, Spastic paraplegia	> 1yr; 2/2	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