RNASEH1 - ribonuclease H1 Gene

PEOB2

Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy

Adult-Onset Cpeo With Mitochondrial Myopathy

Progressive External Ophthalmoplegia, Autosomal Recessive 2

Autosomal Recessive Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions 2

Autosomal Recessive Progressive External Ophthalmoplegia 2

Ophthalmoplegia, External, Progressive, With Mitochondrial Dna Deletions, Autosomal Recessive, Type 2

Mitochondrial Myopathies

Mitochondrial Cytopathy

Myopathies In Mitochondrial Disorders

Mrd27

CSS9

Mental Retardation, Autosomal Dominant 27

Autosomal Dominant Mental Retardation 27

Autosomal Dominant Non-Syndromic Intellectual Disability 27

Coffin-Siris Syndrome, Type 9

SANDO

Mitochondrial Recessive Ataxia Syndrome

Spinocerebellar Ataxia With Epilepsy

Epilepsy, Progressive Myoclonic 5

Epm5

Miras

SCAE

Sensory Ataxic Neuropathy With Mitochondrial Dna Deletions, Autosomal Recessive

Autosomal Recessive Sensory Ataxic Neuropathy With Mitochondrial Dna Deletions

Progressive Myoclonic Epilepsy Type 5

Pme Type 5

Progressive Myoclonus Epilepsy Type 5

Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome

Recessive Mitochondrial Ataxia Syndrome

Sensory Ataxic Neuropathy Dysarthria And Ophthalmoparesis

Mitochondrial Spinocerebellar Ataxia-Epilepsy Syndrome

Mscae

Sensory Ataxic Neuropathy With Mitochondrial Dna Deletions Autosomal Recessive

Progressive Myoclonic Epilepsy With Sensory Ataxic Neuropathy

Epilepsy, Progressive Myoclonic, 5

Ataxia Neuropathy Spectrum

Ophthalmoplegia

Mitochondrial Cytopathy

KSS

Ophthalmoplegia, Pigmentary Degeneration Of Retina, And Cardiomyopathy

Oculocraniosomatic Syndrome

Chronic Progressive External Ophthalmoplegia With Myopathy

Cpeo With Myopathy

Total Ophthalmoplegia

Ophthalmoplegia-Plus Syndrome

Ophthalmoplegia, Progressive External, With Ragged-Red Fibers

Cpeo With Ragged-Red Fibers

Oculomotor Paralysis

Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia Due To Duplication O

Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia Due To Duplication Of Mitochondrial Dna

Proximal Tubulopathy, Diabetes Mellitus And Cerebellar Ataxia

Cpeo With Ragged Red Fibers

Ophthalmoplegia Plus Syndrome

Ophthalmoplegia, Progressive External, With Ragged Red Fibers

Kearns-Sayre Mitochondrial Cytopathy

Mitochondrial Myopathies

Amyotrophic Lateral Sclerosis Type 4

ALS4

Amyotrophic Lateral Sclerosis 4

Dhmn With Upper Motor Neuron Signs

Distal Hereditary Motor Neuropathy With Upper Motor Neuron Signs

Neuronopathy, Distal Hereditary Motor, With Pyramidal Features

Als 4

Distal Hereditary Motor Neuropathy With Pyramidal Features

Amyotrophic Lateral Sclerosis Juvenile 4

Neuronopathy Distal Hereditary Motor With Pyramidal Features

Sclerosis, Lateral, Amyotrophic, Type Type 4

Alpers Syndrome

Alpers-Huttenlocher Syndrome

Alpers Progressive Infantile Poliodystrophy

Alpers Diffuse Degeneration Of Cerebral Gray Matter With Hepatic Cirrhosis

Alpers Disease

Progressive Sclerosing Poliodystrophy

Pndc

Diffuse Cerebral Sclerosis Of Schilder

MTDPS4A

Neuronal Degeneration Of Childhood With Liver Disease, Progressive

Alper'S Syndrome

Alpers' Disease Or Gray-Matter Degeneration

Diffuse Cerebral Degeneration In Infancy

Infantile Poliodystrophy

Poliodystrophia Cerebri Progressiva

Progressive Cerebral Poliodystrophy

Alpers' Disease

Alpers Progressive Sclerosing Poliodystrophy

Progressive Neuronal Degeneration Of Childhood With Liver Disease

Ahs

Mitochondrial Dna Depletion Syndrome 4a Alpers Type

Neuronal Degeneration Of Childhood With Liver Disease Progressive

Mtdna Depletion Syndrome

Ohaha Syndrome

Infantile Onset Spinocerebellar Ataxia

Iosca

Infantile-Onset Spinocerebellar Ataxia

Spinocerebellar Ataxia 8

MTDPS7

Ophthalmoplegia, Hypotonia, Ataxia, Hypacusis, And Athetosis

Ophthalmoplegia-Hypotonia-Ataxia-Hypoacusis-Athetosis Syndrome

Sca8

Spinocerebellar Ataxia Infantile With Sensory Neuropathy

Spinocerebellar Ataxia, Infantile-Onset

Ophthalmoplegia, Hypotonia, Ataxia, Hypoacusis, And Athetosis

Spinocerebellar Ataxia, Infantile, With Sensory Neuropathy

Spinocerebellar Ataxia 8, Formerly

Sca8, Formerly

Iosca, Mitochondrial Dna Depletion Syndrome 7

Ophthalmoplegia - Hypotonia - Ataxia - Hypoacusis - Athetosis

Mitochondrial Dna Depletion Syndrome, Hepatocerebrorenal Form

Mtdna Depletion Syndrome, Hepatocerebrorenal Form

Mitochondrial Dna Depletion Syndrome 7 Hepatocerebral Type

Ophthalmoplegia Hypotonia Ataxia Hypoacusis And Athetosis

Pure Spinocerebellar Ataxia Japanese Type

Sca4 Pure Japanese Type

Spinocerebellar Ataxia Infantile-Onset

Mitochondrial Dna Depletion Syndrome , Type 7

Aoa2

Ataxia With Oculomotor Apraxia Type 2

Scar1

SCAN2

Ataxia-Oculomotor Apraxia 2

Ataxia-Ocular Apraxia 2

Ataxia-Oculomotor Apraxia Type 2

Scan 2

Spinocerebellar Ataxia With Axonal Neuropathy Type 2

Spinocerebellar Ataxia, Autosomal Recessive 1, Formerly

Scar1, Formerly

Autosomal Recessive Spinocerebellar Ataxia-1

Spinocerebellar Ataxia, Autosomal Recessive, 1

Ataxia-Ocular Apraxia-2

Spinocerebellar Ataxia, Autosomal Recessive 1

Muscular Diseases

Myopathies

Melas Syndrome

MELAS

Mitochondrial Encephalomyopathy Lactic Acidosis And Stroke-Like Episodes

Mitochondrial Myopathy, Lactic Acidosis, Stroke-Like Episode

Mitochondrial Encephalomyopathy, Lactic Acidosis, And Stroke-Like Episodes

Myopathy, Mitochondrial-Encephalopathy-Lactic Acidosis-Stroke

Mitochondrial Encephalomyopathy, Lactic Acidosis And Stroke-Like Episodes

Mitochondrial Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes

Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis And Stroke-Like Episodes

Mitochondrial Encephalomyopathy With Lactic Acidosis And Stroke-Like Episodes Syndrome

Myopathy, Mitochondrial, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes