Reference details

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

Mutations mentioned in reference

Protein Domain	Exon/Intron	DNA Change	Protein Change	Type	Reported Classification	Details	LOVD ID
Fn 5	Exon 23	c.3089delA	p.Asn1030ThrfsX81	Deletion; frameshift	Disease-causing	Details

Family	# Affected relatives	DNA change	Protein change	Exon/Intron	Clinical features	Remarks
1	4	c.3089delA	p.Asn1030ThrfsX81	Exon 23	Hydrocephalus, ?	Death <1 yr: 3/4