| Disease Aliases (22) | Ataxia neuropathy spectrum disorder C10orf2-related ataxia neuropathy spectrum disorders Epilepsy, progressive myoclonic, 5 Epilepsy, progressive myoclonic, 5, formerly Epilepsy, progressive myoclonic, with sensory ataxic neuropathy Epm5 Epm5, formerly Pme type 5 Polg-related ataxia neuropathy spectrum disorders Prickle2 progressive myoclonic epilepsy Sando Scae Sensory ataxic neuropathy with mitochondrial dna deletions, autosomal recessive Spinocerebellar ataxia with epilepsy Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome Autosomal recessive sensory ataxic neuropathy with mitochondrial dna deletions Epilepsy, progressive myoclonic, 5; epm5 Epilepsy, progressive myoclonic, type 5 Progressive myoclonic epilepsy caused by mutation in prickle2 Progressive myoclonus epilepsy type 5 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis; sando |
Associated Genes (2) NCBI-RefSeq: POLG (DNA polymerase gamma, catalytic subunit) External Links: gnomAD browser Ensembl GeneCards
NCBI-RefSeq: TWNK (Twinkle mtDNA helicase) External Links: gnomAD browser Ensembl GeneCards
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| Cross-references of Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | OMIM | GARD | Orphanet | NCBI-GTR | NCBI-MedGen | MalaCards | MeSH | Annotations | |