Human (66 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 renal tubule morphology,
Abnormal saccadic eye movements,
Abnormality of eye movement,
Abnormality of thalamus morphology,
Abnormality of the cardiovascular system,
Abnormality of the respiratory system,
Anemia,
Apnea,
Ataxia,
Basal ganglia gliosis,
Bilateral ptosis,
Cardiac conduction abnormality,
Central hypoventilation,
Chorea,
Congestive heart failure,
Decreased liver function,
Developmental regression,
Diffuse white matter abnormalities,
Dilated cardiomyopathy,
Dyskinesia,
Dysphagia,
Dystonia,
Elevated brain lactate level by MRS,
Failure to thrive,
Fluctuations in consciousness,
Generalized hypotonia,
Global brain atrophy,
Global developmental delay,
Hearing impairment,
Hypertrichosis,
Hypertrophic cardiomyopathy,
Increased CSF lactate,
Increased circulating lactate concentration,
Infantile muscular hypotonia,
Intellectual disability,
Involuntary movements,
Leukodystrophy,
Limited extraocular movements,
Mental deterioration,
Metabolic acidosis,
Mitral regurgitation,
Muscle weakness,
Neurodevelopmental delay,
Neuronal loss in basal ganglia,
Nystagmus,
Ophthalmoplegia,
Optic atrophy,
Peripheral neuropathy,
Poor suck,
Pulmonic stenosis,
Renal agenesis,
Renal dysplasia,
Renal tubular acidosis,
Respiratory distress,
Respiratory insufficiency,
Retinopathy,
Seizure,
Spasticity,
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.