Reference details

Bott et al.2004Am J med Genet A84-87130Congenital idiopathic intestinal pseudo-obstruction and hydrocephalus with stenosis of the aqueduct of sylvius 15368500

Mutations mentioned in reference

Protein DomainExon/IntronDNA ChangeProtein ChangeTypeReported ClassificationDetailsLOVD ID
Fn 4Exon 22c.2920G>Tp.Gln974XNonsenseDisease-causing Details


Family# Affected relativesDNA changeProtein changeExon/IntronClinical featuresRemarks
1 1 c.2920G>T p.Gln974XExon 22 (Dys)agenesis corpus callosum, Adducted thumbs, Hirschsprung's disease, Hydrocephalus, Spastic paraplegia