Reference details

Author	Year	Journal	Pages	Volume	Title	Weblink
Takechi et al.	1996	Hum. Genet.	353-356	97	A deletion of five nucleotides in the L1CAM gene in a Japanese family with X-linked hydrocephalus	8786080

Mutations mentioned in reference

Protein Domain	Exon/Intron	DNA Change	Protein Change	Type	Reported Classification	Details	LOVD ID
Ig 3	Exon 8	c.841_845del5	p.Gly281HisfsX25	Deletion; frameshift	Disease-causing	Details

Family	# Affected relatives	DNA change	Protein change	Exon/Intron	Clinical features	Remarks
1	3	c.841_845del5	p.Gly281HisfsX25	Exon 8	Hydrocephalus	Index case >24yrs, younger brother still alive, uncle died in early infancy