SUCLG1 - succinate-CoA ligase GDP/ADP-forming subunit alpha Gene

MTDPS9

Fatal Infantile Lactic Acidosis

Lactic Acidosis, Fatal Infantile, Formerly

Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria

Mitochondrial Dna Depletion Syndrome 9 Encephalomyopathic Type With Methylmalonic Aciduria

Mitochondrial Dna Depletion Syndrome, Type 9

Lactic Acidosis, Fatal Infantile

Acidosis, Lactic

Acidosis Lactic

Mtdna Depletion Syndrome

Succinate-Coa Ligase Deficiency

Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria

MTDPS5

Booth-Haworth-Dilling Syndrome

Mtdna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria

Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Or Without Methylmalonic Aciduria, Autosomal Recessive, Sucla2-Related

Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic

Mitochondrial Dna Depletion Syndrome-5

Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria, Autosomal Recessive

Mitochondrial Encephalomyopathy Aminoacidopathy

Sucla2-Related Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria

Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Mild Methylmalonic Aciduria

Mitochondrial Dna Depletion, Encephalomyopathic Form, With Methylmalonic Aciduria

Succinate-Coenzyme A Ligase Deficiency

Mitochondrial Encephalomyopathy-Aminoacidopathy Syndrome

Encephalomyopathic Mitochondrial Dna Depletion Syndrome With Or Without Methylmalonic Aciduria

Mitochondrial Dna Depletion Syndrome 5 Encephalomyopathic With Or Without Methylmalonic Aciduria

Mitochondrial Dna Depletion Syndrome Encephalomyopathic Form With Or Without Methylmalonic Aciduria Autosomal Recessive Sucla2-Related

Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Methylmalonic Aciduria, Autosomal Recessive

Mitochondrial Dna Depletion Syndrome, Type 5

Gamma-Aminobutyric Acid Transaminase Deficiency

Gamma Aminobutyric Acid Transaminase Deficiency

Gaba Transaminase Deficiency

Gamma-Amino Butyric Acid Transaminase Deficiency

4 Alpha Aminobutyrate Transaminase Deficiency

Abat

Gabat

Gamma Aminobutyrate Transaminase Deficiency

PEOA4

Autosomal Dominant Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions 4

Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 4

Chronic Progressive External Ophthalmoplegia

Progressive External Ophthalmoplegia, Autosomal Dominant 4

Autosomal Dominant Progressive External Ophthalmoplegia 4

Cpeo

Graefe Disease

Mitochondrial Ocular Myopathy

Ocular Myopathy Of Von Graefe-Fuchs

Progressive External Ophthalmoplegia Autosomal Dominant 4

Ophthalmoplegia, External, Progressive, With Mitochondrial Dna Deletions, Autosomal Dominant, Type 4

Kearns-Sayre Syndrome

Navajo Neurohepatopathy

Navajo Neuropathy

MTDPS6

Nnh

Nn

Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome

Navajo Familial Neurogenic Arthropathy

Mpv17-Associated Hepatocerebral Mds

Mitochondrial Dna Depletion 6 Hepatocerebral Type

Mitochondrial Dna Depletion Syndrome , Type 6

Methylmalonyl-Coenzyme A Mutase Deficiency

Methylmalonic Aciduria, Mut Type

Methylmalonic Aciduria, Mut(0) Type

Methylmalonic Acidemia Due To Methylmalonyl-Coa Mutase Deficiency

Vitamin B12-Unresponsive Methylmalonic Aciduria

Vitamin B12-Unresponsive Methylmalonic Acidemia

Methylmalonic Aciduria, Mut Type

Mma Due To Mcm Deficiency

Methylmalonic Aciduria Mut Type

Mcm Deficiency

Methylmalonyl-Coa Mutase Deficiency

Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0

Complete Deficiency Of Methylmalonyl-Coa Mutase

Vitamin B12-Unresponsive Methylmalonic Aciduria Type Mut0

Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-

Partial Deficiency Of Methylmalonyl-Coa Mutase

Vitamin B12-Unresponsive Methylmalonic Aciduria Type Mut-

MMAM

Methylmalonicaciduria Due To Methylmalonyl-Coa Mutase Deficiency

Methylmalonic Aciduria Type Mut

Methylmalonicaciduria Vitamin B12 Unresponsive

Aciduria, Methylmalonic, Due To Methylmalonyl-Coa Mutase Deficiency

ICRD

Infantile Cerebellar Retinal Degeneration

Degeneration, Cerebellar-Retinal, Infantile

Abnormality Of Mitochondrial Metabolism

Mitochondrial Diseases

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

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

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

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

Methylmalonic Aciduria

Mma

Acidemia, Methylmalonic

Isolated Methylmalonic Acidemia

Megdel Syndrome

MEGDEL

Mgca6

3-Methylglutaconic Aciduria With Dystonia-Deafness, Hepatopathy, Encephalopathy, And Leigh-Like Syndrome

Megdhel

3-Methylglutaconic Aciduria, Type Vi

Serac1 Defect

3-Methylglutaconic Aciduria Type 6

3-Mgca Type Iv

3-Mgca-4

3-Methylglutaconic Aciduria Type Vi

3-Methylglutaconic Aciduria Type Iv With Sensorineural Deafness, Encephalopathy, And Leigh-Like Syndrome

Megdhel Syndrome

3-Methylglutaconic Aciduria With Deafness-Encephalopathy-Leigh-Like Syndrome

3-Methylglutaconic Aciduria With Hearing Loss-Encephalopathy-Leigh-Like Syndrome

3-Methylglutaconic Aciduria With Deafness, Encephalopathy, Leigh-Like Syndrome

3-Methylglutaconic Aciduria Type Iv With Sensorineural Deafness, Encephalopathy And Leigh-Like Syndrome

Oroya Fever

Carrion Disease

Bartonellosis Due To Bartonella Bacilliformis Infection

Bartonella Infections

Systemic Bartonellosis Due To Bartonella Bacilliformis

Systemic Carrión Disease

Systemic Bartonellosis

Bartonella Fever

Organic Aciduria

Disorder Of Organic Acid Metabolism

Organic Acid Metabolism Disorder

Organic Acidemias

Inherited Organic Acidemia

Organic Acidurias

Aciduria Organic

Progressive External Ophthalmoplegia

Cpeo

Peo

Ophthalmoplegia, Chronic Progressive External

Ophthalmoplegia, External, Progressive, Chronic

Graefe Disease

Peo - [Progressive External Ophthalmoplegia]

Ophthalmoplegia Plus Syndrome

Optic Atrophy

3-Methylglutaconic Aciduria Type 3

Costeff Syndrome

Mga3

Costeff Optic Atrophy Syndrome

Optic Atrophy Plus Syndrome

Infantile Optic Atrophy With Chorea And Spastic Paraplegia

3-Methylglutaconic Aciduria Type Iii

Autosomal Recessive Optic Atrophy Plus Syndrome

Autosomal Recessive Optic Atrophy Type 3

Opa3 Defect

MGCA3

Mga, Type Iii

Iraqi Jewish Optic Atrophy Plus

Mga Type Iii

Optic Atrophy, Infantile, With Chorea And Spastic Paraplegia

Iraqi-Jewish 'Optic Atrophy Plus'

Optic Atrophy 3, Autosomal Recessive

Opa3, Autosomal Recessive

Opa3-Related 3-Methylglutaconic Aciduria

Iraqi-Jewish Optic Atrophy Plus

Atrophy Of Optic Disc

3-Alpha Methylglutaconic Aciduria Type Iii

Optic Atrophy 3

Optic Atrophy Infantile With Chorea And Spastic Paraplegia

Autosomal Recessive Opa3

Autosomal Recessive Optic Atrophy 3

3-Methylglutaconic Aciduria 3

3-Alpha-Methylglutaconic Aciduria Type 3

Optic Atrophy 3 Autosomal Recessive

Atrophy, Optic

Atrophy, Optic, Plus Syndrome

Optic Nerve Atrophy

Primary Optic Atrophy

Oa - [Optic Atrophy]

Second Cranial Nerve Atrophy

Second Cranium Nerve Atrophy

Mitochondrial Encephalomyopathies

Encephalomyopathy, Mitochondrial

Mitochondrial Myopathies

Mitochondrial Cytopathy

Myopathies In Mitochondrial Disorders

MADD

Ethylmalonic-Adipicaciduria

Ema

Glutaric Acidemia Iia

Glutaric Acidemia Iib

Ga Ii

Glutaric Acidemia Iic

Glutaric Acidemia Type 2

Glutaric Acidemia Ii

Glutaric Aciduria Ii

Electron Transfer Flavoprotein Deficiency

Glutaric Aciduria Type 2

Mad Deficiency

Glutaric Acidemia Type Ii

Glutaric Aciduria 2

Etfa Deficiency

Etfb Deficiency

Etfdh Deficiency

Multiple Acyl Coenzyme A Dehydrogenase Deficiency

Ga2

Electron Transfer Flavoprotein Ubiquinone Oxidoreductase Deficiency

Electron Transfer Flavoprotein Dehydrogenase Deficiency

Ga 2

Glutaric Acidemia 2

Glutaric Acidemia, Type 2

Glutaric Aciduria, Type 2

Mad

Multiple Fad Dehydrogenase Deficiency

Ethylmalonic Adipic Aciduria

Glutaricaciduria Ii

Glutaric Aciduria 2a

GA2A

Gaiia

Glutaricaciduria Iia

Glutaric Aciduria 2b

GA2B

Gaiib

Glutaricaciduria Iib

Glutaric Aciduria 2c

GA2C

Gaiic

Glutaricaciduria Iic

Glutaricaciduria, Type Iia

Glutaric Acidemia Type 2a

Glutaric Acidemia Type 2c

Glutaric Aciduria Iia

Glutaric Aciduria Iib

Glutaric Aciduria Iic

Leigh Disease

Infantile Subacute Necrotizing Encephalopathy

Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency

LS

Sne

Leigh'S Disease

Leigh Syndrome Due To Mitochondrial Complex I Deficiency

Necrotizing Encephalopathy, Infantile Subacute, Of Leigh

Subacute Necrotizing Encephalomyelopathy

Necrotizing Encephalopathy Infantile Subacute Of Leigh

Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency

Infantile Necrotizing Encephalomyelopathy

Juvenile Subacute Necrotizing Encephalomyelopathy

Leigh'S Necrotizing Encephalopathy

Subacute Necrotizing Encephalopathy

Juvenile Subacute Necrotizing Encephalopathy

Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency

Leigh Syndrome Due To Mitochondrial Complex V Deficiency

Encephalopathy, Subacute Necrotizing, Infantile

Encephalopathy, Subacute Necrotizing, Juvenile

Maternally Inherited Leigh Syndrome

Subacute Necrotising Encephalomyelopathy

Subacute Necrotising Encephalopathy