Reference details

Author	Year	Journal	Pages	Volume	Title	Weblink
Nunes et al	2009	Eur Radiol	1-4	Epub ahead of print	Congenital hydrocephalus and L1 disease: a case report (2009: 7b)	19714335

Mutations mentioned in reference

Protein Domain	Exon/Intron	DNA Change	Protein Change	Type	Reported Classification	Details	LOVD ID
n.a.	Intron 7	c.807-6G>A	p.Phe269LeufsX39	RNA splicing defect	Disease-causing	Details

Family	# Affected relatives	DNA change	Protein change	Exon/Intron	Clinical features	Remarks
1	1	c.807-6G>A	p.Phe269LeufsX39	Intron 7	(Dys)agenesis corpus callosum, Adducted thumbs, Hydrocephalus, Hypotonia, Spastic paraplegia