rs1555817157 in
ABHD12 gene and
Congenital pes cavus
PMID 29571850 2018 Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene.
rs374997012 in
TWNK;MRPL43 gene and
Congenital pes cavus
PMID 27551684 2016 Infantile onset spinocerebellar ataxia caused by compound heterozygosity for Twinkle mutations and modeling of Twinkle mutations causing recessive disease.