Mutation Details

DNA change	Protein change	Exon/intron	Type	Reported classification	Bateman	SIFT	PolyPhen	Conserved	Protein domain	Remarks	LOVD ID
c.2920G>T	p.Gln974X	Exon 22	Nonsense	Disease-causing	n.a.	n.a.	n.a.	n.a.	Fn 4

Patients

Family	# Affected relatives	Clinical features	Remarks	Reference
1	1	(Dys)agenesis corpus callosum, Adducted thumbs, Hirschsprung's disease, Hydrocephalus, Spastic paraplegia		Bott et al. (2004)

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