Reference details

Author	Year	Journal	Pages	Volume	Title	Weblink
Rodriguez et al.	2003	Genet Couns	57-65	14	X-linked hydrocephalus: another two families with an L1 mutation	12725590

Mutations mentioned in reference

Protein Domain	Exon/Intron	DNA Change	Protein Change	Type	Reported Classification	Details	LOVD ID
Ig 1	Exon 3	c.196C>T	p.Gln66X	Nonsense	Disease-causing	Details

Family	# Affected relatives	DNA change	Protein change	Exon/Intron	Clinical features	Remarks
1	2	c.196C>T	p.Gln66X	Exon 3	(Dys)agenesis corpus callosum, Adducted thumbs, Hydrocephalus, Hypotonia, Mental retardation, Spastic paraplegia	Patient 1: > 6 yrs