Human (59 sources):
Abnormal mitochondria in muscle tissue,
Acute necrotizing encephalopathy,
Ataxia,
Babinski sign,
Blindness,
Breathing dysregulation,
Cerebellar atrophy,
Cerebral edema,
Coma,
Decreased activity of mitochondrial complex I,
Decreased activity of mitochondrial respiratory chain,
Developmental regression,
Diabetes mellitus,
Dyskinesia,
Encephalopathy,
Exercise intolerance,
Failure to thrive,
Feeding difficulties,
Feeding difficulties in infancy,
Fetal distress,
Focal T2 hyperintense brainstem lesion,
Generalized hypotonia,
Global developmental delay,
Growth delay,
Hepatic failure,
Hepatomegaly,
Hyperreflexia,
Hypertrophic cardiomyopathy,
Hypoglycemia,
Hyporeflexia,
Hypotonia,
Hypoventilation,
Increased CSF lactate,
Increased serum pyruvate,
Intrauterine growth retardation,
Lactic acidosis,
Lethargy,
Leukodystrophy,
Leukoencephalopathy,
Microcephaly,
Mitochondrial myopathy,
Muscle weakness,
Nystagmus,
Optic disc pallor,
Optic neuropathy,
Paroxysmal involuntary eye movements,
Poor eye contact,
Poor head control,
Progressive macrocephaly,
Proximal tubulopathy,
Ptosis,
Respiratory insufficiency,
Seizure,
Sensorineural hearing impairment,
Severe muscular hypotonia,
Skeletal muscle atrophy,
Spasticity,
Strabismus,
Vomiting
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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.