Human (49 sources):
Abnormal cerebral white matter morphology,
Abnormality of mitochondrial metabolism,
Areflexia,
Arthrogryposis multiplex congenita,
Babinski sign,
Cerebellar atrophy,
Cerebral atrophy,
Cerebral white matter atrophy,
Cognitive impairment,
Decreased Achilles reflex,
Decreased activity of mitochondrial complex I,
Decreased activity of mitochondrial complex II,
Developmental regression,
Difficulty walking,
Distal amyotrophy,
Distal lower limb muscle weakness,
Distal peripheral sensory neuropathy,
Distal sensory impairment,
EMG: neuropathic changes,
Edema,
Encephalopathy,
Feeding difficulties,
High palate,
Hyperactive patellar reflex,
Hyperreflexia,
Hypoplasia of the corpus callosum,
Intrauterine growth retardation,
Irritability,
Lactic acidosis,
Leukodystrophy,
Metabolic acidosis,
Microcephaly,
Nystagmus,
Optic atrophy,
Peripheral axonal neuropathy,
Pes cavus,
Polyhydramnios,
Polymicrogyria,
Progressive spastic paraplegia,
Recurrent fever,
Respiratory insufficiency,
Retrognathia,
Seizure,
Severe muscular hypotonia,
Spastic paraplegia,
Spastic tetraplegia,
Visual field defect,
Visual impairment,
Wide intermamillary distance
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