Reference details

Hofstra et al.2002J. Med. Genetel 139 Hirschsprung disease and L1CAM: is the disturbed sex ratio caused by L1CAM mutations? 11897831

Mutations mentioned in reference

Protein DomainExon/IntronDNA ChangeProtein ChangeTypeReported ClassificationDetailsLOVD ID
n.a.Intron 5c.523+6T>GnoneIntronic variationNon disease-causing Details


Family# Affected relativesDNA changeProtein changeExon/IntronClinical featuresRemarks
1 1 c.523+6T>G noneIntron 5 Adducted thumbs, Hirschsprung's disease, Hydrocephalus, Mental retardation