Mutation Details

DNA change	Protein change	Exon/intron	Type	Reported classification	Bateman	SIFT	PolyPhen	Conserved	Protein domain	Remarks	LOVD ID
c.2267delC	p.Pro756LeufsX95	Exon 18	Deletion; frameshift	Disease-causing	n.a.	n.a.	n.a.	n.a.	Fn 2

Patients

Family	# Affected relatives	Clinical features	Remarks	Reference
1	1	Adducted thumbs, Hirschsprung's disease, Hydrocephalus, Mental retardation, Spastic paraplegia		Griseri et al (2009)

Year	Author	Title	Journal	Volume	Pages	Weblink
2009	Griseri et al	Complex pathogenesis of Hirschsprung's disease in a patient with hydrocephalus, vesico-ureteral reflux and a balanced translocation t(3;17)(p12;q11)	Eur J Hum Genet	17(4)	483-490	19300444