Variant: rs1554728351

present in Gene: CDK5RAP2 present in Chromosome: 9 Position on Chromosome: 120402984 Alleles of this Variant: -/AC

rs1554728351 in CDK5RAP2 gene and Microcephaly, Primary Autosomal Recessive, 3 PMID 28778786 2017 A novel mutation in CDK5RAP2 gene causes primary microcephaly with speech impairment and sparse eyebrows in a consanguineous Pakistani family.