Mutation Details

DNA change	Protein change	Exon/intron	Type	Reported classification	Bateman	SIFT	PolyPhen	Conserved	Protein domain	Remarks	LOVD ID
c.1780delA	p.Ser594ValfsX33	Exon 14	Deletion; frameshift	Disease-causing	n.a.	n.a.	n.a.	n.a.	Ig 6

Patients

Family	# Affected relatives	Clinical features	Remarks	Reference
1	Unknown	Hydrocephalus, ?		Fransen et al. (1996)

Year	Author	Title	Journal	Volume	Pages	Weblink
1996	Fransen et al.	The clinical spectrum of mutations in L1, a neuronal cell adhesion molecule	Am. J. Med. Genet.	64	73-77	8826452