rs1555817157 in
ABHD12 gene and
Optic Atrophy
PMID 29571850 2018 Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene.
rs1057517686 in
ATAD3A gene and
Optic Atrophy
PMID 27640307 2016 We identified a recurrent de novo ATAD3A c.1582C>T (p.Arg528Trp) variant by whole-exome sequencing (WES) in five unrelated individuals with a core phenotype of global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy.
rs779027563 in
CNTNAP1 gene and
Optic Atrophy
PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.
rs374997012 in
TWNK;MRPL43 gene and
Optic Atrophy
PMID 27551684 2016 Infantile onset spinocerebellar ataxia caused by compound heterozygosity for Twinkle mutations and modeling of Twinkle mutations causing recessive disease.