Condition: Microcephaly, Primary Autosomal Recessive, 3


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.

PMID 27761245 2016 Activation of an exonic splice-donor site in exon 30 of CDK5RAP2 in a patient with severe microcephaly and pigmentary abnormalities.

PMID 15793586 2005 A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size.