Mutation Details

DNA change	Protein change	Exon/intron	Type	Reported classification	Bateman	SIFT	PolyPhen	Conserved	Protein domain	Remarks	LOVD ID
c.2872+1G>A	p.?	Intron 21	Splice site	Disease-causing	n.a.	n.a.	n.a.	n.a.	n.a.

Patients

Family	# Affected relatives	Clinical features	Remarks	Reference
1	3	MASA syndrome	Index case MASA; HSAS 2/3	Saugier-Veber et al. (1998)
2	1	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
1998	Saugier-Veber et al.	Identification of novel L1CAM mutations using fluorescence-assisted mismatch analysis	Hum. Mutat.	12	259-266	9744477