Reference details

Author	Year	Journal	Pages	Volume	Title	Weblink
Silan et al	2005	Prenat Diagn	57-59	25(1)	A novel L1CAM mutation with L1 spectrum disorders	15662685

Mutations mentioned in reference

Protein Domain	Exon/Intron	DNA Change	Protein Change	Type	Reported Classification	Details	LOVD ID
Ig 5	Exon 11	c.1375C>T	p.Gln459X	Nonsense	Disease-causing	Details

Family	# Affected relatives	DNA change	Protein change	Exon/Intron	Clinical features	Remarks
1	9	c.1375C>T	p.Gln459X	Exon 11	(Dys)agenesis corpus callosum, Hydrocephalus	Index case: terminated pregnancy. Case 2 > 6 yrs: HC, MR, SP, AT