Reference details

Hiraki et al.2008Am J med Genet A1241-1247146ATwo new cases of pure 1q terminal deletion presenting with brain malformations 18384145

Mutations mentioned in reference

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


Family# Affected relativesDNA changeProtein changeExon/IntronClinical featuresRemarks
1 1 c.92T>C p.Val31AlaExon 3 Adducted thumbs, Hydrocephalus, Hypotonia Plus: 1q terminal deletion and many features thereof. > 5 yrs