Reference details

Author	Year	Journal	Pages	Volume	Title	Weblink
Takahashi et al.	1997	Brain & Development	559-562	19	L1CAM mutation in a Japanese family with X-linked hydrocephalus: a study for genetic counseling	9440802

Mutations mentioned in reference

Protein Domain	Exon/Intron	DNA Change	Protein Change	Type	Reported Classification	Details	LOVD ID
Fn 4	Exon 22	c.3002delC	p.Pro1001LeufsX110	Deletion; frameshift	Disease-causing	Details

Family	# Affected relatives	DNA change	Protein change	Exon/Intron	Clinical features	Remarks
1	1	c.3002delC	p.Pro1001LeufsX110	Exon 22	(Dys)agenesis corpus callosum, Adducted thumbs, Hydrocephalus, Mental retardation, Spastic paraplegia	> 9 yr