Mutation Details

DNA change	Protein change	Exon/intron	Type	Reported classification	Bateman	SIFT	PolyPhen	Conserved	Protein domain	Remarks	LOVD ID
c.466C>G	p.Ser156X	Exon 5	Nonsense	Disease-causing	n.a.	n.a.	n.a.	n.a.	Ig 2

Patients

Family	# Affected relatives	Clinical features	Remarks	Reference
1	2	(Dys)agenesis corpus callosum, Hydrocephalus, Mental retardation	Index case died at the age of 12 yrs. Patient 2 died shortly after birth.	Graf et al. (2000)

Year	Author	Title	Journal	Volume	Pages	Weblink
2000	Graf et al.	Diffusion-weighted magnetic resonance imaging in boys with neural cell adhesion molecule L1 mutations and congenital hydrocephalus	Ann. Neurol.	47	113-117	10632110