Reference details

Author	Year	Journal	Pages	Volume	Title	Weblink
Bott et al.	2004	Am J med Genet A	84-87	130	Congenital idiopathic intestinal pseudo-obstruction and hydrocephalus with stenosis of the aqueduct of sylvius	15368500

Mutations mentioned in reference

Protein Domain	Exon/Intron	DNA Change	Protein Change	Type	Reported Classification	Details	LOVD ID
Fn 4	Exon 22	c.2920G>T	p.Gln974X	Nonsense	Disease-causing	Details

Family	# Affected relatives	DNA change	Protein change	Exon/Intron	Clinical features	Remarks
1	1	c.2920G>T	p.Gln974X	Exon 22	(Dys)agenesis corpus callosum, Adducted thumbs, Hirschsprung's disease, Hydrocephalus, Spastic paraplegia