Generalized limb muscle atrophy, Global developmental delay, Hepatic failure, Hepatic fibrosis, Hepatomegaly, Hepatosplenomegaly, Hyperreflexia, Hyporeflexia, Intellectual disability, mild, Intention tremor, Motor delay, Optic atrophy, Paresthesia, Peripheral neuropathy, Progressive cerebellar ataxia, Saccadic smooth pursuit, Sensorimotor neuropathy, Somatic sensory dysfunction, Spasticity, Splenomegaly, Stuttering, Talipes equinovarus, Tremor

abnormal muscle regeneration, abnormal myelin sheath morphology, abnormal neuromuscular synapse morphology, abnormal peripheral nervous system regeneration, abnormal Purkinje cell dendrite morphology, abnormal Purkinje cell morphology, abnormal sciatic nerve morphology, abnormal skeletal muscle fiber type ratio, abnormal tail movements, behavior/neurological phenotype, decreased body size, decreased grip strength, decreased motor neuron number, decreased Purkinje cell number, decreased skeletal muscle fiber diameter, decreased skeletal muscle mass, hindlimb paralysis, increased variability of skeletal muscle fiber size, microgliosis, muscle phenotype, muscular atrophy, nervous system phenotype, peripheral nervous system degeneration, premature death, reduced fertility, skeletal muscle fiber necrosis, skeleton phenotype, small myocardial fiber