Mutation Details

DNA change	Protein change	Exon/intron	Type	Reported classification	Bateman	SIFT	PolyPhen	Conserved	Protein domain	Remarks	LOVD ID
c.92T>C	p.Val31Ala	Exon 3	Missense	Disease-causing	n.a.	Not tolerated	Benign	Highly	None

Patients

Family	# Affected relatives	Clinical features	Remarks	Reference
1	1	(Dys)agenesis corpus callosum, Adducted thumbs, Hirschsprung's disease, Hydrocephalus	>3 yrs	Nakakimura et al. (2008)
2	1	Adducted thumbs, Hydrocephalus, Hypotonia	Plus: 1q terminal deletion and many features thereof. > 5 yrs	Hiraki et al. (2008)

Year	Author	Title	Journal	Volume	Pages	Weblink
2008	Hiraki et al.	Two new cases of pure 1q terminal deletion presenting with brain malformations	Am J med Genet A	146A	1241-1247	18384145
2008	Nakakimura et al.	Hirschsprung's disease, acrocallosal syndrome, and congenital hydrocephalus: report of 2 patients and literature review	J Pediatr Surg	43(5)	E13-E17	18485929