Human (50 sources):
Abnormal cerebral white matter morphology,
Abnormality of movement,
Abnormal pyramidal sign,
Acidosis,
Anemia,
Apnea,
Ataxia,
Cognitive impairment,
Decreased activity of mitochondrial respiratory chain,
Decreased activity of the pyruvate dehydrogenase complex,
Delayed speech and language development,
Dysarthria,
Dystonia,
Emotional lability,
Failure to thrive,
Focal T2 hyperintense basal ganglia lesion,
Generalized hypotonia,
Global developmental delay,
Hearing impairment,
Hyperreflexia,
Hypertrichosis,
Hypertrophic cardiomyopathy,
Hypotonia,
Incoordination,
Increased circulating lactate concentration,
Increased CSF lactate,
Intellectual disability, severe,
Leukodystrophy,
Microcephaly,
Neurogenic bladder,
Nystagmus,
Obesity,
Ophthalmoplegia,
Optic atrophy,
Peripheral neuropathy,
Pigmentary retinopathy,
Progressive cerebellar ataxia,
Progressive spastic paraplegia,
Ptosis,
Reduced visual acuity,
Seizure,
Short stature,
Spasticity,
Strabismus,
Tremor,
Unsteady gait,
Ventricular septal defect,
Ventricular septal hypertrophy,
Visual impairment,
Wolff-Parkinson-White syndrome
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These phenotypes are associated with this gene with a has phenotype relation via Monarch.