rs587783390, CDK5RAP2

N. diseases: 2
Disease: Microcephaly ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Microcephaly
CUI: C0025958
Disease: Microcephaly
0.010 GeneticVariation BEFREE Sequencing of the coding exons and exon/intron splice junctions of the CDK5RAP2 gene identified homozygosity for the novel nonsense mutation, c.4441C > T (p.Arg1481*), in both affected sons. cMRI showed microcephaly, simplified gyral pattern and hypogenesis of the corpus callosum. 23587236 2013