Human (99 sources):
Abnormal CSF lactate concentration,
Abnormal brain lactate level by MRS,
Abnormal brainstem morphology,
Abnormal caudate nucleus morphology,
Abnormal cerebral cortex morphology,
Abnormal globus pallidus morphology,
Abnormal pattern of respiration,
Abnormal renal tubule morphology,
Abnormal saccadic eye movements,
Abnormality of eye movement,
Abnormality of movement,
Abnormality of thalamus morphology,
Abnormality of the cardiovascular system,
Abnormality of the respiratory system,
Acidosis,
Anemia,
Apnea,
Areflexia,
Ataxia,
Axonal loss,
Basal ganglia gliosis,
Bilateral ptosis,
CNS demyelination,
Cardiac conduction abnormality,
Central hypoventilation,
Chorea,
Cognitive impairment,
Congestive heart failure,
Decreased activity of mitochondrial respiratory chain,
Decreased activity of the pyruvate dehydrogenase complex,
Decreased liver function,
Developmental regression,
Difficulty walking,
Diffuse white matter abnormalities,
Dilated cardiomyopathy,
Dysarthria,
Dyskinesia,
Dysphagia,
Dystonia,
Easy fatigability,
Elevated brain lactate level by MRS,
Emotional lability,
Failure to thrive,
Fluctuations in consciousness,
Focal T2 hyperintense basal ganglia lesion,
Generalized hypotonia,
Gliosis,
Global brain atrophy,
Global developmental delay,
Hearing impairment,
Hemiplegia/hemiparesis,
Hepatocellular necrosis,
Horizontal nystagmus,
Hyperreflexia,
Hypertrichosis,
Hypertrophic cardiomyopathy,
Hypotonia,
Increased CSF lactate,
Increased circulating lactate concentration,
Infantile muscular hypotonia,
Intellectual disability,
Intellectual disability, severe,
Involuntary movements,
Kyphoscoliosis,
Lactic acidosis,
Leukodystrophy,
Limited extraocular movements,
Mental deterioration,
Mitral regurgitation,
Muscle weakness,
Neurodevelopmental delay,
Neuronal loss in basal ganglia,
Nystagmus,
Ophthalmoplegia,
Optic atrophy,
Peripheral demyelination,
Peripheral neuropathy,
Pigmentary retinopathy,
Poor suck,
Progressive cerebellar ataxia,
Progressive ophthalmoplegia,
Progressive spastic paraplegia,
Psychomotor retardation,
Ptosis,
Pulmonic stenosis,
Renal agenesis,
Renal dysplasia,
Renal tubular acidosis,
Respiratory distress,
Respiratory insufficiency,
Retinopathy,
Seizure,
Sensorineural hearing impairment,
Skeletal muscle atrophy,
Spasticity,
Strabismus,
Ventricular septal defect,
Ventriculomegaly,
Visual impairment
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Gene expression phenotype annotations where the gene of interest has been
disrupted (manipulated) or is the gene assayed (assayed). Computed annotations are derived from
differential expression analysis from Xenbase processed GEO data with the criteria of a TPM >= 1,
FDR <= 0.05 and an absolute LogFC >= 2.