Reference details

Author	Year	Journal	Pages	Volume	Title	Weblink
Du et al.	1998a	J. Med. Genet.	456-462	35	A silent mutation, C924T (G308G), in the L1CAM gene results in X-linked hydrocephalus (HSAS)	9643285

Mutations mentioned in reference

Protein Domain	Exon/Intron	DNA Change	Protein Change	Type	Reported Classification	Details	LOVD ID
Ig 3	Exon 8	c.924C>T	p.Gly308_Glu330del	RNA splicing defect	Disease-causing	Details

Family	# Affected relatives	DNA change	Protein change	Exon/Intron	Clinical features	Remarks
1	6	c.924C>T	p.Gly308_Glu330del	Exon 8	(Dys)agenesis corpus callosum, Hydrocephalus, Mental retardation	Index case >7 yrs, 4 greatuncles died at birth or in early infancy