At a Glance
Combined oxidative phosphorylation deficiency 8;
2-aminoadipic 2-oxoadipic aciduria;
3-Methylglutaconic aciduria type 1
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Combined oxidative phosphorylation deficiency 8
2-aminoadipic 2-oxoadipic aciduria
3-Methylglutaconic aciduria type 1
3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 3
3-methylglutaconic aciduria type V
Abnormal facial shape
Abnormal pattern of respiration
Abnormality of cells of the megakaryocyte lineage
Abnormality of dental enamel
Abnormality of extrapyramidal motor function
Abnormality of female internal genitalia
Abnormality of mitochondrial metabolism
Abnormality of movement
Abnormality of retinal pigmentation
Abnormality of the cardiac septa
Abnormality of the gastrointestinal tract
Abnormality of the mitral valve
Abnormality of the nail
Abnormality of the nose
Abnormality of the testis
Abnormality of the tricuspid valve
Abnormality of the vitreous humor
Absent speech
Acyl-CoA dehydrogenase family, member 9, deficiency of
Age-related macular degeneration 8
Alpers encephalopathy
Ambiguous genitalia
Aminoaciduria
Aminoglycoside-induced deafness
Amish lethal microcephaly
Anauxetic dysplasia 1
Anemia
Anemia sideroblastic and spinocerebellar ataxia
Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive
Anterior creases of earlobe
Aplasia cutis congenita
Aplasia/Hypoplasia affecting the eye
Aplasia/Hypoplasia involving the central nervous system
Aplasia/Hypoplasia of the corpus callosum
Aplasia/Hypoplasia of the skin
Areflexia
Arthrogryposis multiplex congenita
Ataxia
Ataxia, spastic, 3, autosomal recessive
Ataxia, spastic, 4, autosomal recessive
Ataxia-oculomotor apraxia type 1
Atrial septal defect
Attention deficit hyperactivity disorder
Autosomal dominant inheritance
Autosomal dominant optic atrophy plus syndrome
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5
Babinski sign
Biotin-thiamine-responsive basal ganglia disease
Body mass index quantitative trait locus 4
Bradycardia
Brain atrophy
Brittle hair
CNS demyelination
CNS hypomyelination
Carcinoid tumor of intestine
Cardiac arrhythmia
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2
Cardiomyopathy
Cataract
Cataract, autosomal recessive congenital 5
Cerebellar ataxia infantile with progressive external ophthalmoplegia
Cerebellar atrophy
Cerebral atrophy
Cerebral cortical atrophy
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2D
Charcot-Marie-Tooth disease, axonal type
Charcot-Marie-Tooth disease, recessive intermediate B
Charcot-Marie-Tooth disease, type 2A1
Charcot-Marie-Tooth disease, type 2A2A
Choreoathetosis
Chorioretinal abnormality
Clubbing
Coenzyme Q10 deficiency, primary
Coenzyme Q10 deficiency, primary 1
Coenzyme Q10 deficiency, primary, 2
Coenzyme Q10 deficiency, primary, 3
Coenzyme Q10 deficiency, primary, 5
Coenzyme Q10 deficiency, primary, 6
Cognitive impairment
Combined d-2- and l-2-hydroxyglutaric aciduria
Combined oxidative phosphorylation deficiency
Combined oxidative phosphorylation deficiency 1
Combined oxidative phosphorylation deficiency 10
Combined oxidative phosphorylation deficiency 12
Combined oxidative phosphorylation deficiency 14
Combined oxidative phosphorylation deficiency 15
Combined oxidative phosphorylation deficiency 2
Combined oxidative phosphorylation deficiency 3
Combined oxidative phosphorylation deficiency 4
Combined oxidative phosphorylation deficiency 5
Combined oxidative phosphorylation deficiency 7
Combined oxidative phosphorylation deficiency 9
Concave nasal ridge
Cone-rod dystrophy
Congenital cerebellar hypoplasia
Congenital diaphragmatic hernia
Congenital myasthenic syndrome, acetazolamide-responsive
Congenital myopathy with fiber type disproportion
Congestive heart failure
Convex nasal ridge
Cortical visual impairment
Cough
Cowchock syndrome
Cowden syndrome
Cowden syndrome 3
Cytochrome C oxidase-negative muscle fibers
Deafness, autosomal recessive
Deafness, autosomal recessive 89
Death in infancy
Decreased antibody level in blood
Decreased liver function
Deficiency of butyryl-CoA dehydrogenase
Delayed myelination
Delayed speech and language development
Depressed nasal bridge
Developmental regression
Diamond-Blackfan anemia
Diamond-Blackfan anemia 5
Diarrhea
Difficulty walking
Dilated cardiomyopathy
Dilated cardiomyopathy 1GG
Displacement of the external urethral meatus
Distal hereditary motor neuronopathy type 5
Distal sensory impairment
Dominant hereditary optic atrophy
Downslanted palpebral fissures
Dysarthria
Dyskinesia
Dysmetria
Dysphagia
Dysphonia
Dysplasia of acetabulum
Dyspnea
Dystonia
Early myoclonic encephalopathy
Easy fatigability
Ectopic kidney
Elevated hepatic transaminases
Elevated serum creatine phosphokinase
Emotional lability
Encephalopathy
Encephalopathy due to defective mitochondrial and peroxisomal fission 1
Epicanthus
Epileptic encephalopathy
Epileptic encephalopathy, early infantile, 1
Erythrocyte lactate transporter defect
Erythroid hypoplasia
Ethylmalonic encephalopathy
Everted lower lip vermilion
Exercise intolerance
Exercise-induced hyperinsulinemic hypoglycemia
Exertional dyspnea
Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis
Facial palsy
Failure to thrive
Feeding difficulties
Female pseudohermaphroditism
Flexion contracture
Foot dorsiflexor weakness
Friedreich ataxia 1
GRACILE syndrome
Gait disturbance
Gastroesophageal reflux
Gastrointestinal stroma tumor
Generalized amyotrophy
Glaucoma
Glaucoma, normal tension, susceptibility to
Gliosis
Global developmental delay
Glycosuria
Gowers sign
Growth delay
Growth hormone deficiency
Hearing impairment
Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency
Hepatic steatosis
Hepatocellular necrosis
Hepatomegaly
Hereditary disease
Hereditary motor and sensory neuropathy with optic atrophy
High forehead
High palate
Highly arched eyebrow
Hurthle cell carcinoma of thyroid
Hydrocephalus
Hyperalaninemia
Hyperammonemia
Hyperphosphaturia
Hypertelorism
Hypertrichosis
Hypertrophic cardiomyopathy
Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis
Hypochromic microcytic anemia
Hypoglycemia
Hypomyelination, global cerebral
Hypopigmented skin patches
Hypoplasia of the corpus callosum
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration
Hyporeflexia
Hypospadias
Immunodeficiency with hyper IgM type 5
Incoordination
Increased CSF lactate
Increased hepatocellular lipid droplets
Increased intramyocellular lipid droplets
Increased serum lactate
Increased serum pyruvate
Intellectual disability
Intellectual disability, mild
Intention tremor
Interstitial lung and liver disease
Interstitial pulmonary abnormality
Intrauterine growth restriction
Irregular hyperpigmentation
Kyphoscoliosis
Kyphosis
L-2-hydroxyglutaric aciduria
Lactic acidosis
Leigh syndrome
Leigh syndrome, French Canadian type
Lethargy
Leukodystrophy
Leukodystrophy, hypomyelinating, 4
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
Leukoencephalopathy, progressive, with ovarian failure
Limb hypertonia
Limb-girdle muscle weakness
Linear skin defects with multiple congenital anomalies 1
Lissencephaly 2, X-linked
Liver cirrhosis
Liver failure acute infantile
Long QT syndrome
Long philtrum
Macrocephalus
Malar flattening
Male pseudohermaphroditism
Mental retardation, with or without seizures, ARX-related, X-linked
Metabolic acidosis
Metaphyseal chondrodysplasia, McKusick type
Metaphyseal dysplasia without hypotrichosis
Micrognathia
Microvascular complications of diabetes 6
Microvesicular hepatic steatosis
Minicore myopathy
Mitochondrial DNA depletion syndrome 1 (MNGIE type)
Mitochondrial DNA depletion syndrome 12b (cardiomyopathic type), autosomal recessive
Mitochondrial DNA depletion syndrome 2
Mitochondrial DNA depletion syndrome 4B, MNGIE type
Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)
Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy
Mitochondrial DNA-depletion syndrome 3, hepatocerebral
Mitochondrial complex I deficiency
Mitochondrial complex II deficiency
Mitochondrial complex III deficiency
Mitochondrial complex III deficiency, nuclear type 2
Mitochondrial complex III deficiency, nuclear type 3
Mitochondrial complex III deficiency, nuclear type 4
Mitochondrial encephalomyopathy
Mitochondrial phosphate carrier deficiency
Mitochondrial pyruvate carrier deficiency
Mitochondrial respiratory chain defects
Mohr-Tranebjaerg syndrome
Motor delay
Multiple congenital anomalies
Multiple mitochondrial dysfunctions syndrome 1
Multiple mitochondrial dysfunctions syndrome 2
Muscle cramps
Muscular Diseases
Muscular hypotonia
Muscular hypotonia of the trunk
Myalgia
Myelodysplasia
Myocardial infarction
Myoclonus
Myopathy with lactic acidosis, hereditary
Myopathy, Central Core
Myopathy, lactic acidosis, and sideroblastic anemia 1
Myopathy, lactic acidosis, and sideroblastic anemia 2
Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay
Myopia
Myopia 6
Narrow face
Nasal speech
Nausea
Navajo neurohepatopathy
Neonatal sepsis
Nephrocalcinosis
Neuroblastoma
Neurological speech impairment
Neutropenia
Nonsyndromic microcephaly
Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1
Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2
Nystagmus
Obesity
Obstructive sleep apnea syndrome
Onion bulb formation
Opacification of the corneal stroma
Ophthalmoparesis
Ophthalmoplegia
Optic atrophy
Optic atrophy 7
Optic atrophy and cataract, autosomal dominant
Optic disc pallor
Organic aciduria
Osteopenia
Pachygyria
Paraganglioma and gastric stromal sarcoma
Paragangliomas 1
Paragangliomas 2
Paragangliomas 3
Paragangliomas 4
Paragangliomas 5
Partington X-linked mental retardation syndrome
Patent ductus arteriosus 1
Peripheral axonal neuropathy
Peripheral neuropathy
Perrault syndrome
Perrault syndrome 2
Perrault syndrome 4
Pes cavus
Pheochromocytoma
Pigmentary pallidal degeneration
Pili torti-deafness syndrome
Plagiocephaly
Polyhydramnios
Polymicrogyria
Pontocerebellar hypoplasia type 6
Poor eye contact
Posterior embryotoxon
Posteriorly rotated ears
Primary hyperoxaluria, type III
Primary pulmonary hypertension
Progressive external ophthalmoplegia
Progressive microcephaly
Progressive sclerosing poliodystrophy
Proteinuria
Protruding ear
Proud Levine Carpenter syndrome
Proximal amyotrophy
Ptosis
Pulmonary alveolar proteinosis
Recurrent infections
Refractory macrocytic anemia
Renal Fanconi syndrome
Renal dysplasia
Renal tubular acidosis
Renal tubular dysfunction
Respiratory distress
Respiratory failure
Respiratory insufficiency
Respiratory insufficiency due to muscle weakness
Reticular dysgenesis
Retinitis pigmentosa
Retrognathia
Rotary nystagmus
Sacral dimple
Sandal gap
Sclerocornea
Scoliosis
Seizures
Sengers syndrome
Sensorimotor neuropathy
Sensorineural hearing loss
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Severe muscular hypotonia
Short chin
Short foot
Short nose
Shy-Drager syndrome
Sideroblastic anemia
Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay
Skeletal muscle atrophy
Slender build
Small for gestational age
Spastic ataxia 5, autosomal recessive
Spastic paraplegia
Spastic paraplegia 13
Spastic paraplegia 7
Spasticity
Spinal canal stenosis
Spinal cord compression
Spinal deformities
Spinal rigidity
Spinocerebellar ataxia 28
Steppage gait
Striatal necrosis, bilateral, and progressive polyneuropathy
Stridor
Susceptibility to strabismus
Tetralogy of Fallot
Thick eyebrow
Thin upper lip vermilion
Thrombocytopenia 4
Tongue fasciculations
Triglyceride storage disease with ichthyosis
Ventricular hypertrophy
Visual field defect
Visual impairment
Wide intermamillary distance
Wilson disease
Wolfram syndrome 2
growth hormone deficiency with short stature
partial sensorineural deafness
progressive
AARS2 (6p21.1);
ABCB7 (Xq13.3);
ABCB8 (7q36.1);
ABHD5 (3p21.33);
ACAD9 (3q21.3)
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Conditions
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Total conditions: 416
Condition/Phenotype
Identifier
Methodology
Total methods: 0
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