Mutation Details

DNA change	Protein change	Exon/intron	Type	Reported classification	Bateman	SIFT	PolyPhen	Conserved	Protein domain	Remarks	LOVD ID
c.3089delA	p.Asn1030ThrfsX81	Exon 23	Deletion; frameshift	Disease-causing	n.a.	n.a.	n.a.	n.a.	Fn 5

Patients

Family	# Affected relatives	Clinical features	Remarks	Reference
1	4	Hydrocephalus, ?	Death <1 yr: 3/4	Jouet et al. (1996), Strain et al (1994)

Year	Author	Title	Journal	Volume	Pages	Weblink
1996	Jouet et al.	Discordant segregation of Xq28 markers and a mutation in the L1 gene in a family with X linked hydrocephalus	J. Med. Genet.	33	218-250	8728703