Reference details

Author	Year	Journal	Pages	Volume	Title	Weblink
Nakakimura et al.	2008	J Pediatr Surg	E13-E17	43(5)	Hirschsprung's disease, acrocallosal syndrome, and congenital hydrocephalus: report of 2 patients and literature review	18485929

Mutations mentioned in reference

Protein Domain	Exon/Intron	DNA Change	Protein Change	Type	Reported Classification	Details	LOVD ID
None	Exon 3	c.92T>C	p.Val31Ala	Missense	Disease-causing	Details

Family	# Affected relatives	DNA change	Protein change	Exon/Intron	Clinical features	Remarks
1	1	c.92T>C	p.Val31Ala	Exon 3	(Dys)agenesis corpus callosum, Adducted thumbs, Hirschsprung's disease, Hydrocephalus	>3 yrs