Variant: rs146725009

present in Gene: PCDH12 present in Chromosome: 5 Position on Chromosome: 141956857 Alleles of this Variant: A/T

rs146725009 in PCDH12 gene and MICROCEPHALY, SEIZURES, SPASTICITY, AND BRAIN CALCIFICATIONS PMID 27164683 2016 Loss of function of PCDH12 underlies recessive microcephaly mimicking intrauterine infection.

PMID 28804758 2017 Brain calcifications and PCDH12 variants.