Variant: rs531630376 

    present in Gene: PCDH12
    present in Chromosome: 5
    Position on Chromosome: 141955844
    Alleles of this Variant: C/A

rs531630376 in PCDH12 gene and Cerebellar Ataxia PMID 30459466 2019 Homozygous PCDH12 variants result in phenotype of cerebellar ataxia, dystonia, retinopathy, and dysmorphism.

rs531630376 in PCDH12 gene and Dysmorphic facies PMID 30459466 2019 Homozygous PCDH12 variants result in phenotype of cerebellar ataxia, dystonia, retinopathy, and dysmorphism.

rs531630376 in PCDH12 gene and Dystonia PMID 30459466 2019 Homozygous PCDH12 variants result in phenotype of cerebellar ataxia, dystonia, retinopathy, and dysmorphism.

rs531630376 in PCDH12 gene and Exudative retinopathy PMID 30459466 2019 Homozygous PCDH12 variants result in phenotype of cerebellar ataxia, dystonia, retinopathy, and dysmorphism.