AAAS (ALADIN, ADRACALIN)

ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME, AAA
» TRIPLE-A SYNDROME
» ALACRIMA-ACHALASIA-ADRENAL INSUFFICIENCY NEUROLOGIC DISORDER
» GLUCOCORTICOID DEFICIENCY AND ACHALASIA
» ALLGROVE SYNDROME
» ADDISONIAN-ACHALASIA SYNDROME
» HYPOADRENALISM WITH ACHALASIA
» ALACRIMA-ACHALASIA-ADDISONIANISM
» ACTH-RESISTANT ADRENAL INSUFFICIENCY, ACHALASIA AND ALACRIMA
» ACHALASIA-ALACRIMA SYNDROME

231550

ABCB7 (ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 7, ABC TRANSPORTER 7)

ACADVL (ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, VLCAD)

BCS1L (BCS1, S. CEREVISIAE, HOMOLOG-LIKE)

CYTOCHROME c OXIDASE DEFICIENCY
» COX DEFICIENCY
» COMPLEX 3, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF

GRACILE SYNDROME
» GROWTH RETARDATION, AMINO ACIDURIA, CHOLESTASIS, IRON OVERLOAD, LACTIC ACIDOSIS, AND EARLY DEATH
» FINNISH LETHAL NEONATAL METABOLIC SYNDROME
» LACTIC ACIDOSIS, FINNISH, WITH HEPATIC HEMOSIDEROSIS
» FELLMAN SYNDROME

C10ORF2 (CHROMOSOME 10 OPEN READING FRAME 2,  T7 GENE 4-LIKE PROTEIN WITH INTRAMITOCHONDRIAL NUCLEOID LOCALIZATION, TWINKLE)

SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS, SANDO
»  SPINOCEREBELLAR ATAXIA WITH EPILEPSY

COX10 (CYTOCHROME c OXIDASE ASSEMBLY PROTEIN COX10, HEME A:FARNESYLTRANSFERASE)

CYTOCHROME c OXIDASE DEFICIENCY
» COX DEFICIENCY
» COMPLEX 4, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF

COX15 (CYTOCHROME c OXIDASE ASSEMBLY PROTEIN COX15)

CPT1A (CARNITINE PALMITOYLTRANSFERASE 1, LIVER, CPT1)

CARNITINE PALMITOYLTRANSFERASE 1A DEFICIENCY
» CPT1 DEFICIENCY

CPT2 (CARNITINE PALMITOYLTRANSFERASE 2, LIVER, CPT2)

CARNITINE PALMITOYLTRANSFERASE 2 DEFICIENCY, INFANTILE
» CARNITINE PALMITOYLTRANSFERASE 2 DEFICIENCY WITH HYPOKETOTIC HYPOGLYCEMIA
» CARNITINE PALMITOYLTRANSFERASE 2 DEFICIENCY, HEPATOCARDIOMUSCULAR
» CPT2 DEFICIENCY, HEPATIC

CARNITINE PALMITOYLTRANSFERASE 2 DEFICIENCY, LATE-ONSET
» CARNITINE PALMITOYLTRANSFERASE 2 (CPT2) DEFICIENCY, MYOPATHIC
» CARNITINE PALMITOYLTRANSFERASE 2 (CPT2) DEFICIENCY, ADULT-ONSET
» CPT2 DEFICIENCY, MYOPATHIC
» CPT2 DEFICIENCY, LATE-ONSET

CARNITINE PALMITOYLTRANSFERASE 2 DEFICIENCY, LETHAL NEONATAL
» CARNITINE PALMITOYLTRANSFERASE 2 DEFICIENCY, NEONATAL
» CPT2 DEFICIENCY, LETHAL NEONATAL

ECGF1 (ENDOTHELIAL CELL GROWTH FACTOR, PLATELET-DERIVED, THYMIDINE PHOSPHORYLASE, GLIOSTATIN)

MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME, MNGIE
» MYONEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME
» POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION
» POLIP SYNDROME
» MNGIE WITHOUT LEUKOENCEPHALOPATHY

FOXC1 (FORKHEAD BOX C1, FORKHEAD, DROSOPHILA, HOMOLOG-LIKE 7, FKHL7 FORKHEAD-RELATED ACTIVATOR 3, FREAC3)

IRIDOGONIODYSGENESIS SYNDROME, TYPE 2, IRID2
» IRIS HYPOPLASIA WITH EARLY-ONSET GLAUCOMA (AUTOSOMAL DOMINANT), IHGA

HADHB (HYDROXYACYL-CoA DEHYDROGENASE/3-KETOACYL-CoA THIOLASE/ENOYL-CoA HYDRATASE, BETA SUBUNIT, TRIFUNCTIONAL PROTEIN, BETA SUBUNIT
MITOCHONDRIAL TRIFUNCTIONAL PROTEIN, BETA SUBUNIT
HYDROXYACYL-CoA DEHYDROGENASE, HADH)

JPH3 (JUNCTOPHILIN 3)

MYH (MUTYH, MUTY, E. COLI, HOMOLOG OF)

NDUFS1 (NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 1, COMPLEX 1, MITOCHONDRIAL RESPIRATORY CHAIN, 75-KD SUBUNIT)

CYTOCHROME c OXIDASE DEFICIENCY
» COX DEFICIENCY
» COMPLEX 1, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF

NDUFS3 (NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 3, NADH-COENZYME Q REDUCTASE, 30-KD COMPLEX 1, MITOCHONDRIAL RESPIRATORY CHAIN, 30-KD SUBUNIT)

CYTOCHROME c OXIDASE DEFICIENCY
» COX DEFICIENCY
» COMPLEX 1, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF

NDUFS4 (NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 4, NADH-COENZYME Q REDUCTASE, 18-KD COMPLEX 1, MITOCHONDRIAL RESPIRATORY CHAIN, 18-KD SUBUNIT, AQDQ)

CYTOCHROME c OXIDASE DEFICIENCY
» COX DEFICIENCY
» COMPLEX 1, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF

NDUFS7 (NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 7, NADH-COENZYME Q REDUCTASE, 20-KD COMPLEX 1, MITOCHONDRIAL RESPIRATORY CHAIN, 20-KD SUBUNIT, PSST)

CYTOCHROME c OXIDASE DEFICIENCY
» COX DEFICIENCY
» COMPLEX 1, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF

NDUFS8 (NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 8, COMPLEX 1, MITOCHONDRIAL RESPIRATORY CHAIN, 23-KD SUBUNIT, TYKY)

CYTOCHROME c OXIDASE DEFICIENCY
» COX DEFICIENCY
» COMPLEX 1, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF

NDUFV1 (NADH-UBIQUINONE OXIDOREDUCTASE FLAVOPROTEIN 1, COMPLEX 1, MITOCHONDRIAL RESPIRATORY CHAIN, 51-KD SUBUNIT, UQOR1)

CYTOCHROME c OXIDASE DEFICIENCY
» COX DEFICIENCY
» COMPLEX 1, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF

NTRK1

INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, CIPA
» NEUROPATHY, CONGENITAL SENSORY, WITH ANHIDROSIS
» HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY 4, HSAN4
» FAMILIAL DYSAUTONOMIA, TYPE 2

OPTIC ATROPHY 1
» OPTIC ATROPHY, JUVENILE
» KJER TYPE OPTIC ATROPHY
» OPTIC ATROPHY, DEAFNESS, OPHTHALMOPLEGIA, AND MYOPATHY

POLG (POLYMERASE, DNA, GAMMA)

PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS (AUTOSOMAL DOMINANT), 1
» PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA (AUTOSOMAL DOMINANT), 1
» PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH HYPOGONADISM
» OCULAR MYOPATHY WITH HYPOGONADISM
» MYOPATHY, CATARACT, HYPOGONADISM SYNDROME

SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS, SANDO
»  SPINOCEREBELLAR ATAXIA WITH EPILEPSY

607459

ALPERS DIFFUSE DEGENERATION OF CEREBRAL GRAY MATTER WITH HEPATIC CIRRHOSIS
» ALPERS PROGRESSIVE INFANTILE POLIODYSTROPHY
» ALPERS SYNDROME
» ALPERS-HUTTENLOCHER SYNDROME
» NEURONAL DEGENERATION OF CHILDHOOD WITH LIVER DISEASE, PROGRESSIVE

SPINOCEREBELLAR ATAXIA 
» AUTOSOMAL DOMINANT CEREBELLAR ATAXIA, ADCA

SCO1 (S. CEREVISIAE, HOMOLOG OF, CYTOCHROME OXIDASE-DEFICIENT 1, S. CEREVISIAE, HOMOLOG OF)

SDHA (SUCCINATE DEHYDROGENASE COMPLEX, SUBUNIT A, FLAVOPROTEIN, SUCCINATE DEHYDROGENASE 2, FLAVOPROTEIN SUBUNIT; SDH2)

SLC22A5 (SOLUTE CARRIER FAMILY 22, ORGANIC CATION TRANSPORTER, MEMBER 5, OCTN2)

CARNITINE DEFICIENCY, SYSTEMIC PRIMARY
» SYSTEMIC CARNITINE DEFICIENCY
» CARNITINE DEFICIENCY, SYSTEMIC, DUE TO DEFECT IN RENAL REABSORPTION OF CARNITINE
» CARNITINE DEFICIENCY, PRIMARY
» CARNITINE TRANSPORTER, PLASMA-MEMBRANE, DEFICIENCY OF
» CARNITINE UPTAKE DEFECT

SLC25A4 (SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER), MEMBER 4, ADENINE NUCLEOTIDE TRANSLOCATOR 1, ANT1
ADP/ATP TRANSLOCATOR OF SKELETAL MUSCLE,
ADP/ATP TRANSLOCASE 1)

PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, (AUTOSOMAL DOMINANT), 2
» PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA (AUTOSOMAL DOMINANT), 2

SLC25A20 (SOLUTE CARRIER FAMILY 25, MEMBER 20, CARNITINE-ACYLCARNITINE TRANSLOCASE,
CARNITINE-ACYLCARNITINE CARRIER)

CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY
» CACT DEFICIENCY