PDHA1 - pyruvate dehydrogenase E1 subunit alpha 1 Gene

Pyruvate Dehydrogenase Deficiency

Pyruvate Dehydrogenase Complex Deficiency

Pyruvate Decarboxylase Deficiency

Pdh Deficiency

PDHAD

Pyruvate Dehydrogenase Complex Deficiency Disease

Ataxia With Lactic Acidosis I

Ataxia With Lactic Acidosis 1

Pdh

Pdhc

Ataxia With Lactic Acidosis

Ataxia, Intermittent, With Abnormal Pyruvate Metabolism

Ataxia, Intermittent, With Pyruvate Dehydrogenase Deficiency

Deficiency Of Pyruvic Dehydrogenase

Ataxia, Intermittent, With Pyruvate Dehydrogenase, Or Decarboxylase, Deficiency

Pdc Deficiency

Intermittent Ataxia With Pyruvate Dehydrogenase Deficiency

Pdhc Deficiency

Pyruvate Dehydrogenase Complex E1 Component Subunit Alpha Deficiency

Ataxia Intermittent With Abnormal Pyruvate Metabolism

Ataxia Intermittent With Pyruvate Dehydrogenase Or Decarboxylase Deficiency

Pyruvate Dehydrogenase E1 Alpha Deficiency

Pdc - [Pyruvate Dehydrogenase Complex] Deficiency

Ataxia With Lactic Acidosis 2

SIDS

Sudden Infant Death Syndrome, Susceptibility To

Cot Death

Crib Death

Sudden Death Of Nonspecific Cause In Infancy

Sudden Infant Death

Death, Sudden, Syndrome, Infant

Infantile Subacute Necrotizing Encephalopathy With Leukodystrophy

Leigh Disease With Leukodystrophy

CLS

Coffin Syndrome 1

Coffin Syndrome

Intellectual Disability With Osteocartilaginous Abnormalities

Dwarfism, Lean Spastic Type

Lean Spastic Dwarfism

Mental Retardation With Osteocartilaginous Abnormalities

Coffin Lowry Syndrome

Acidosis, Lactic

Acidosis Lactic

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

Isaacs Syndrome

Neuromyotonia

Isaacs' Syndrome

Acquired Neuromyotonia

Continuous Muscle Fiber Activity Syndrome

Quantal Squander Syndrome

Isaacs-Mertens Syndrome

Ea Syndrome

Episodic Ataxia Syndrome

Isaac Syndrome

Isaac'S-Merten'S Syndrome

Isaac-Mertens Syndrome

Peripheral Nerve Hyperexcitability

Ea

Peripheral Nerve Hyperexcitability Syndrome

Ataxia, Episodic

Isaacs Neuromyotonia

Continuous Muscle Fibre Activity

Lacticacidemia Due To Pdx1 Deficiency

PDHXD

Lactic Acidemia Due To Defect In Lipoyl-Containing Component X Of The Pyruvate Dehydrogenase Complex

2-Oxoglutarate Complex Deficiency

Branched Chain Alpha-Ketoacid Dehydrogenase Complex Deficiency

Diaphorase Deficiency

Dihydrolipoyl Dehydrogenase Deficiency

Glycine Cleavage System L Protein Deficiency

Lipoamide Dehydrogenase Deficiency

Pyruvate Dehydrogenase Complex Component E3 Deficiency

Pyruvate Dehydrogenase Protein X Component Deficiency

Nadh Cytochrome B5 Reductase Deficiency

Infantile Hemiplegia

Postnatal Infantile Hemiplegia

Hemiplegia, Infantile

Guillain-Barré Syndrome

Acute Inflammatory Polyneuropathy

Gbs

Acute Inflammatory Demyelinating Polyneuropathy

Acute Inflammatory Demyelinating Polyradiculoneuropathy

Acute Infective Polyneuritis

Acute Inflammatory Demyelinating Polyradiculopathy

Acute Postinfectious Polyneuropathy

Infectious Neuronitis

Post-Infectious Polyneuritis

Postinfectious Polyneuritis

Acute Autoimmune Peripheral Neuropathy

Acute Immune-Mediated Polyneuropathy

Acute Inflammatory Neuropathy

Guillain-Barré-Strohl Syndrome

Landry'S Ascending Paralysis

Landry-Guillain-Barre-Strohl Syndrome

Post-Infective Polyneuritis

Acute Infectious Polyneuritis

Fisher Syndrome

Landry-Guillain-Barre Syndrome

Guillain-Barre-Strohl Syndrome

Variant Of Guillain-Barre Syndrome

Variant Of Gbs

Aidp

Acute Idiopathic Demyelinating Polyneuropathy

Gbs, Acute Inflammatory Demyelinating Polyradiculoneuropathic Form

Guillain-Barre Syndrome, Acute Inflammatory Demyelinating Polyradiculoneuropathic Form

Miller Fisher Syndrome

CBAS1

Congenital Bile Acid Synthesis Defect 1

3-Beta-Hydroxy-Delta-5-C27-Steroid Oxidoreductase Deficiency

Congenital Bile Acid Synthesis Defect Type 1

Basd1

Congenital Bile Acid Synthesis Defect, Type 1

3-Alpha Beta-Hydroxy-Delta-5-C27-Steroid Oxidoreductase, Deficiency Of

3beta-Hsdh Deficiency

3beta-Hydroxy-Delta-5-C27-Steroid Dehydrogenase Deficiency

3beta-Hydroxy-Delta-5-C27-Steroid Oxidoreductase Deficiency

Neonatal Progressive Intrahepatic Cholestasis

Pfic4

Progressive Familial Intrahepatic Cholestasis Type 4

Bile Acid Synthesis Defect, Congenital, Type 1

Cholestasis, Progressive Familial Intrahepatic 4

Encephalopathy Due To Urocanase Deficiency

Urocanate Hydratase Deficiency

Urocanic Aciduria

UROCD

High Urine Urocanic Acid Levels

Dystonic Disease

Dystonic Disorder

Dystonia Disorders

Neuroleptic Dyskinesia

Alternating Hemiplegia

Ahc

Alternating Hemiplegia Syndrome

Hemiplegia, Alternating, Of Childhood

Hemiplegia, Crossed

Mitochondrial Complex I Deficiency

Nadh:Q(1) Oxidoreductase Deficiency

MC1DN1

Nadh-Coenzyme Q Reductase Deficiency

Isolated Mitochondrial Respiratory Chain Complex I Deficiency

Isolated Nadh-Coenzyme Q Reductase Deficiency

Isolated Nadh-Coq Reductase Deficiency

Isolated Nadh-Ubiquinone Reductase Deficiency

Mitochondrial Nadh Dehydrogenase Component Of Complex I, Deficiency Of

Nuclear Type Mitochondrial Complex I Deficiency 1

Isolated Complex I Deficiency

Complex 1 Mitochondrial Respiratory Chain Deficiency

Nadh Coenzyme Q Reductase Deficiency

Complex I Mitochondrial Respiratory Chain Deficiency

Deficiency Of Mitochondrial Nadh Dehydrogenase Component Of Complex I

Nadh:Ubiquinone Oxidoreductase Deficiency

Complex I, Mitochondrial Respiratory Chain, Deficiency Of

Congenital Neurologic Anomaly

Congenital Nervous System Disorder