Reference details

AuthorYearJournalPagesVolumeTitleWeblink
Nakakimura et al.2008J Pediatr SurgE13-E1743(5)Hirschsprung's disease, acrocallosal syndrome, and congenital hydrocephalus: report of 2 patients and literature review 18485929

Mutations mentioned in reference

Protein DomainExon/IntronDNA ChangeProtein ChangeTypeReported ClassificationDetailsLOVD ID
NoneExon 3c.92T>Cp.Val31AlaMissenseDisease-causing Details

Patients

Family# Affected relativesDNA changeProtein changeExon/IntronClinical featuresRemarks
1 1 c.92T>C p.Val31AlaExon 3 (Dys)agenesis corpus callosum, Adducted thumbs, Hirschsprung's disease, Hydrocephalus >3 yrs