Human (52 sources):
Abnormal facial shape,
Areflexia,
Arthrogryposis multiplex congenita,
Ataxia,
Babinski sign,
Central scotoma,
Clonus,
Cognitive impairment,
Decreased sensory nerve conduction velocity,
Developmental regression,
Difficulty walking,
Distal sensory impairment,
Dysarthria,
Facial diplegia,
Failure to thrive,
Focal white matter lesions,
Foot dorsiflexor weakness,
Generalized hypotonia,
Global developmental delay,
Hyperreflexia,
Hypoplasia of the corpus callosum,
Hypotonia,
Increased CSF lactate,
Increased circulating lactate concentration,
Intellectual disability,
Intellectual disability, mild,
Lower limb muscle weakness,
Lower limb spasticity,
Muscle weakness,
Nystagmus,
Onion bulb formation,
Ophthalmoplegia,
Optic atrophy,
Optic neuropathy,
Paralytic ileus,
Peripheral axonal neuropathy,
Peripheral neuropathy,
Polyneuropathy,
Poor fine motor coordination,
Psychomotor retardation,
Ptosis,
Reduced visual acuity,
Skeletal muscle atrophy,
Spastic paraparesis,
Spastic paraplegia,
Spasticity,
Steppage gait,
Strabismus,
Talipes equinovarus,
Tibialis muscle weakness,
Upper limb muscle weakness,
Visual impairment
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