Condition: MICROCEPHALY, SEIZURES, SPASTICITY, AND BRAIN CALCIFICATIONS


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.