At a Glance
Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy;
3-Methylglutaconic aciduria type 3;
Abortive cerebellar ataxia
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Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
3-Methylglutaconic aciduria type 3
Abortive cerebellar ataxia
Acute intermittent porphyria
Acyl-CoA dehydrogenase 9 deficiency
Adult polyglucosan body disease
Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
Alpha-methylacyl-CoA racemase deficiency
Arginine:glycine amidinotransferase deficiency
Arthrogryposis, distal, type 2B3
Autosomal dominant optic atrophy classic form
Autosomal recessive ataxia due to ubiquinone deficiency
Autosomal recessive limb-girdle muscular dystrophy type 2Z
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2
Cardiomyopathy-hypotonia-lactic acidosis syndrome
Carnitine acylcarnitine translocase deficiency
Carnitine palmitoyl transferase 1A deficiency
Cataract 38
Charcot-Marie-Tooth disease, axonal, type 2EE
Coenzyme Q10 deficiency, primary, 1
Coenzyme Q10 deficiency, primary, 3
Combined oxidative phosphorylation defect type 26
Combined oxidative phosphorylation deficiency 33
Congenital bile acid synthesis defect 4
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
Congenital cataracts-facial dysmorphism-neuropathy syndrome
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A
Contractures, pterygia, and variable skeletal fusions syndrome 1B
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome
Deficiency of 3-hydroxyacyl-CoA dehydrogenase
Deficiency of alpha-mannosidase
Deficiency of aromatic-L-amino-acid decarboxylase
Dilated cardiomyopathy 1GG
Dowling-Degos disease 4
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
Exercise-induced hyperinsulinism
Fanconi renotubular syndrome 1
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
Freeman-Sheldon syndrome
Glaucoma, normal tension, susceptibility to
Glycogen storage disease IXb
Glycogen storage disease IXd
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
Glycogen storage disease due to muscle beta-enolase deficiency
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
Glycogen storage disease type III
Glycogen storage disease type X
Glycogen storage disease, type IV
Glycogen storage disease, type V
Glycogen storage disease, type VII
HNSHA due to aldolase A deficiency
Hearing loss, X-linked 4
Hyperinsulinemic hypoglycemia, familial, 4
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
Infantile onset spinocerebellar ataxia
Ketoacidosis due to monocarboxylate transporter-1 deficiency
Leigh syndrome
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Marinesco-Sjögren syndrome
Medium-chain acyl-coenzyme A dehydrogenase deficiency
Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression
Metabolic myopathy due to lactate transporter defect
Mitochondrial DNA deletion syndrome with progressive myopathy
Mitochondrial DNA depletion syndrome 1
Mitochondrial DNA depletion syndrome 11
Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant
Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive
Mitochondrial DNA depletion syndrome 13
Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)
Mitochondrial DNA depletion syndrome 16 (hepatic type)
Mitochondrial DNA depletion syndrome 3
Mitochondrial DNA depletion syndrome 4b
Mitochondrial DNA depletion syndrome 8a
Mitochondrial DNA depletion syndrome 9
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
Mitochondrial complex 4 deficiency, nuclear type 11
Mitochondrial complex 4 deficiency, nuclear type 7
Mitochondrial complex II deficiency, nuclear type 1
Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy
Mitochondrial myopathy-lactic acidosis-deafness syndrome
Mitochondrial trifunctional protein deficiency
Multiple acyl-CoA dehydrogenase deficiency
Multiple system atrophy
Myoglobinuria, acute recurrent, autosomal recessive
Myopathy with abnormal lipid metabolism
Myopathy, lactic acidosis, and sideroblastic anemia 1
Myopathy, lactic acidosis, and sideroblastic anemia 2
Navajo neurohepatopathy
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
Optic atrophy 3
PGM1-CDG
Paragangliomas 5
Perrault syndrome 5
Polyglucosan body myopathy type 1
Portal hypertension, noncirrhotic
Primary coenzyme Q10 deficiency 8
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2
Progressive sclerosing poliodystrophy
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
Renal carnitine transport defect
Seckel syndrome 8
Sengers syndrome
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Triglyceride storage disease with ichthyosis
Very long chain acyl-CoA dehydrogenase deficiency
Wilson disease
ABHD5 (3p21.33);
ACAD9 (3q21.3);
ACADM (1p31.1);
ACADVL (17p13.1);
AGK (7q34)
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ABHD5 (3p21.33)
ACAD9 (3q21.3)
ACADM (1p31.1)
ACADVL (17p13.1)
AGK (7q34)
AGL (1p21.2)
AHCY (20q11.22)
ALDOA (16p11.2)
AMACR (5p13.2)
ATP7B (13q14.3)
C1QBP (17p13.2)
COQ2 (4q21.23)
COQ4 (9q34.11)
COQ7 (16p12.3)
COQ8A (1q42.13)
COQ9 (16q21)
COX15 (10q24.2)
COX20 (1q44)
COX6B1 (19q13.12)
CPT1A (11q13.3)
CTDP1 (18q23)
DDC (7p12.2-12.1)
DGUOK (2p13.1)
DNA2 (10q21.3)
ENO3 (17p13.2)
ETFA (15q24.2-24.3)
ETFB (19q13.41)
ETFDH (4q32.1)
FBXL4 (6q16.1-16.2)
FDX2 (19p13.2)
FLAD1 (1q21.3)
GATM (15q21.1)
GBE1 (3p12.2)
GFER (16p13.3)
HADH (4q25)
HADHA (2p23.3)
HADHB (2p23.3)
HMBS (11q23.3)
LDHA (11p15.1)
LPIN1 (2p25.1)
MAN2B1 (19p13.13)
MGME1 (20p11.23)
MPV17 (2p23.3)
MYH3 (17p13.1)
OPA1 (3q29)
OPA3 (19q13.32)
PDSS1 (10p12.1)
PDSS2 (6q21)
PFKM (12q13.11)
PGAM2 (7p13)
PGK1 (Xq21.1)
PGM1 (1p31.3)
PHKA1 (Xq13.1)
PHKB (16q12.1)
PNPLA8 (7q31.1)
POGLUT1 (3q13.33)
POLG (15q26.1)
POLG2 (17q23.3)
PUS1 (12q24.33)
PYGM (11q13.1)
RBCK1 (20p13)
RNASEH1 (2p25.3)
RRM2B (8q22.3)
SDHA (5p15.33)
SIL1 (5q31.2)
SLC16A1 (1p13.2)
SLC22A5 (5q31.1)
SLC25A20 (3p21.31)
SLC25A3 (12q23.1)
SLC25A4 (4q35.1)
SLC25A42 (19p13.11)
SMPX (Xp22.12)
SUCLA2 (13q14.2)
SUCLG1 (2p11.2)
TANGO2 (22q11.21)
TRMT5 (14q23.1)
TSFM (12q14.1)
TWNK (10q24.31)
TYMP (22q13.33)
YARS2 (12p11.21)
Conditions
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Total conditions: 112
Condition/Phenotype
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Methodology
Total methods: 0
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