Behavioral abnormality, Cerebellar atrophy, Cerebellar vermis atrophy, Cerebellar vermis hypoplasia, Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Decreased number of large peripheral myelinated nerve fibers, Decreased sensory nerve conduction velocity, Demyelinating peripheral neuropathy, Difficulty walking, Distal amyotrophy, Distal muscle weakness, Distal sensory impairment, Dysarthria, Dysmetria, Dysphagia, Falls, Foot dorsiflexor weakness, Gait ataxia, Gaze-evoked horizontal nystagmus, Hammertoe, Hypermyelinated retinal nerve fibers, Hyperreflexia, Hypoplasia of the corpus callosum, Impaired smooth pursuit, Impaired tactile sensation, Impaired vibration sensation in the lower limbs, Impaired vibratory sensation, Impotence, Intellectual disability, Intention tremor, Loss of Purkinje cells in the cerebellar vermis, Lower limb spasticity, Mitral valve prolapse, Muscle weakness, Nystagmus, Parietal cortical atrophy, Peripheral neuropathy, Pes cavus, Progressive cerebellar ataxia, Progressive gait ataxia, Progressive truncal ataxia, Scanning speech, Sensorimotor neuropathy, Spastic ataxia, Spasticity, Swan neck-like deformities of the fingers, Unsteady gait, Upper motor neuron dysfunction, Urinary incontinence, Urinary urgency

decreased gastrocnemius weight, decreased grip strength, decreased soleus weight, impaired balance, limb grasping, preweaning lethality, complete penetrance, preweaning lethality, incomplete penetrance, small uterus