Mutation Details

DNA change	Protein change	Exon/intron	Type	Reported classification	Bateman	SIFT	PolyPhen	Conserved	Protein domain	Remarks	LOVD ID
c.3002delC	p.Pro1001LeufsX110	Exon 22	Deletion; frameshift	Disease-causing	n.a.	n.a.	n.a.	n.a.	Fn 4

Patients

Family	# Affected relatives	Clinical features	Remarks	Reference
1	1	(Dys)agenesis corpus callosum, Adducted thumbs, Hydrocephalus, Mental retardation, Spastic paraplegia	> 9 yr	Takahashi et al. (1997)

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