ETFB - electron transfer flavoprotein subunit beta Gene

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

Glutaric Aciduria Type 2, Mild Type

Mad Deficiency, Mild Type

Madd, Mild Type

Glutaric Aciduria Type 2, Severe Neonatal Type

Mad Deficiency, Severe Neonatal Type

Madd, Severe Neonatal Type

Fazio-Londe Syndrome

Riboflavin Transporter Deficiency Neuronopathy

Brown-Vialetto-Van Laere Syndrome

Progressive Bulbar Palsy Of Childhood

Bulbar Palsy, Progressive, Of Childhood

Bvvls

Pontobulbar Palsy With Deafness

Progressive Bulbar Palsy With Sensorineural Deafness

Riboflavin Transporter Deficiency

FALOND

Bulbar Palsy Progressive Of Childhood

Bulbar Palsy Of Childhood, Progressive

Stricture Of Ureteropelvic Junction With Hydronephrosis

Hydronephrosis With Ureteral Stricture, Not Elsewhere Classified

Bulbar Palsy, Progressive

Progressive Bulbar Atrophy

Bulbar Palsy

Pbp - [Progressive Bulbar Palsy]

Progressive Bulbar Paralysis

Bulbar Paralysis

Chronic Bulbar Palsy

Chronic Bulbar Paralysis

Supranuclear Bulbar Paralysis

Carnitine Uptake Defect

Renal Carnitine Transport Defect

Systemic Primary Carnitine Deficiency

CDSP

Systemic Carnitine Deficiency

Carnitine Transporter Deficiency

Cud

Primary Carnitine Deficiency

Carnitine Uptake Deficiency

Carnitine Deficiency, Systemic, Due To Defect In Renal Reabsorption Of Carnitine

Carnitine Deficiency, Primary

Systemic Primary Carnitine Deficiency Disease

Deficiency Of Plasma-Membrane Carnitine Transporter

Scd

Carnitine Transporter, Plasma-Membrane, Deficiency Of

Carnitine Transport Defect

Carnitine Plasma-Membrane Transporter Deficiency

Carnitine Transporter Defect

Spcd

Tfp Deficiency

MTPD

Trifunctional Protein Deficiency

Trifunctional Protein Deficiency With Myopathy And Neuropathy

Tfpd

Familial Hypertrophic Cardiomyopathy

Cardiomyopathy Familial Hypertrophic

Familial Hcm

Heritable Hypertrophic Cardiomyopathy

Mtp Deficiency

Tpa Deficiency

Trifunctional Protein Deficiency, Type 2

Abetalipoproteinemia

Mcad Deficiency

Carnitine Deficiency Secondary To Medium-Chain Acyl-Coa Dehydrogenase Deficiency

Acadm Deficiency

Acyl-Coa Dehydrogenase, Medium Chain, Deficiency Of

Medium Chain Acyl-Coa Dehydrogenase Deficiency

ACADMD

Mcadh Deficiency

Mcadd

Medium Chain Acyl-Coenzyme A Dehydrogenase Deficiency

Acyl-Coa Dehydrogenase Medium-Chain Deficiency

Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency

Medium Chain Acyl Dehydrogenase Deficiency

Vlcad Deficiency

Very Long Chain Acyl-Coa Dehydrogenase Deficiency

Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency

Lcad Deficiency

Very Long-Chain Acyl-Coa Dehydrogenase Deficiency

Long Chain Acyl-Coa Dehydrogenase Deficiency

ACADVLD

Acadl Deficiency

Vlcadd

Long-Chain Acyl-Coa Dehydrogenase Deficiency

Acadvl

Acyl-Coa Dehydrogenase Very Long Chain Deficiency

Very Long-Chain Acyl Coenzyme A Dehydrogenase Deficiency

Vlcad-C

Vlcad-H

Acyl-Coa Dehydrogenase, Very Long Chain, Deficiency Of

Acyl-Coa Dehydrogenase Very Long-Chain Deficiency

Acyl-Coa Dehydrogenase Long-Chain Deficiency

Deficiency, Very Long Chain Acyl-Coa Dehydrogenase

Long Chain/Very Long Chain Acyl Coa Dehydrogenase Deficiency

Ariboflavinosis

Maternal Riboflavin Deficiency

RBFVD

Vitamin B2 Deficiency

Hyporiboflavinosis

Carnitine Palmitoyltransferase Ii Deficiency

Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form

Carnitine Palmitoyltransferase Ii Deficiency, Late-Onset

Carnitine Palmitoyltransferase Ii Deficiency With Hypoketotic Hypoglycemia

Carnitine Palmitoyltransferase Ii Deficiency, Hepatocardiomuscular

Cpt Ii Deficiency, Hepatic

Cpt2 Deficiency, Infantile

Cpt Ii Deficiency, Infantile

Cpt Ii Deficiency

Carnitine Palmitoyltransferase 2 Deficiency

Cpt2

Carnitine Palmitoyltransferase Deficiency Type 2

Carnitine Palmitoyl Transferase 2 Deficiency

Cpt-Ii

Infantile Carnitine Palmitoyltransferase Ii Deficiency

Late-Onset Carnitine Palmitoyltransferase Ii Deficiency

Lethal Neonatal Carnitine Palmitoyltransferase Ii Deficiency

Carnitine Palmitoyltransferase Ii Deficiency

Cpt2 Deficiency

Cptii

Cpt2, Hepatocardiomuscular Form

Cpt2, Severe Infantile Form

Cptii, Hepatocardiomuscular Form

Cptii, Severe Infantile Form

Carnitine Palmitoyl Transferase Ii Deficiency, Hepatocardiomuscular Form

Carnitine Palmitoyl Transferase Deficiency Type 2, Hepatocardiomuscular Form

Carnitine Palmitoyl Transferase Deficiency Type 2, Severe Infantile Form

Carnitine Palmitoyltransferase 2 Deficiency, Infantile

CPT2DI

Cpt Deficiency, Hepatic, Type Ii

Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal

Cact Deficiency

Carnitine Acylcarnitine Translocase Deficiency

CACTD

Carnitine-Acylcarnitine Carrier Deficiency

Acyl-Coa Dehydrogenase 9 Deficiency

Acad9 Deficiency

MC1DN20

Mitochondrial Complex I Deficiency Due To Acad9 Deficiency

Nuclear Type Mitochondrial Complex I Deficiency 20

Acyl-Coa Dehydrogenase Family, Member 9, Deficiency Of

Mitochondrial Complex 1 Deficiency Due To Acad9 Deficiency

Deficiency Of Acyl-Coa Dehydrogenase Family Member 9

Acyl-Coa Dehydrogenase Family, Member 9, Deficiency

NPHP3

Nph3

Adolescent Nephronophthisis

Nephronophthisis, Type 3

Muscular Diseases

Myopathies

Elevated Serum Cpk

Idiopathic Hyperckemia

Isolated Hyperckemia

Elevated Serum Creatine Phosphokinase

H-Ck

Idiopathic Persistent Elevation Of Serum Creatine Kinase

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