Bowel incontinence, Cerebellar atrophy, Cerebellar vermis atrophy, Cerebral cortical atrophy, Cognitive impairment, Color vision test abnormality, Corpus callosum atrophy, Depression, Dysarthria, Dysdiadochokinesis, Dysmetria, Dysmyelinating leukodystrophy, Dysphagia, Dystonia, Enuresis nocturna, Expressive aphasia, External ophthalmoplegia, Falls, Foot dorsiflexor weakness, Frequent falls, Generalized dystonia, Horizontal nystagmus, Hyperreflexia, Hypoplasia of the corpus callosum, Intellectual disability, Kyphosis, Loss of ambulation, Lower limb hypertonia, Lower limb spasticity, Mask-like facies, Mental deterioration, Neck muscle weakness, Neurodegeneration, Nystagmus, obsolete Difficulty walking, obsolete Focal seizures, afebril, obsolete Iron accumulation in globus pallidus, obsolete Loss of ability to walk, Oculomotor apraxia, Ophthalmoplegia, Optic atrophy, Peripheral demyelination, Peripheral neuropathy, Pollakisuria, Pontocerebellar atrophy, Positional foot deformity, Progressive extrapyramidal movement disorder, Progressive gait ataxia, Progressive spastic paraparesis, Progressive spastic paraplegia, Progressive spastic quadriplegia, Seizure, Slow decrease in visual acuity, Spastic paraparesis, Spastic paraplegia, Spastic tetraparesis, Strabismus, Supranuclear gaze palsy, Upper motor neuron dysfunction, Urinary incontinence, Urinary urgency, Visual field defect

abnormal Purkinje cell morphology, abnormal sebaceous gland physiology, abnormal sebaceous lipid secretion, abnormal spatial learning, behavior/neurological phenotype, decreased cholesterol level, decreased locomotor activity, decreased vertical activity, delayed exit from anagen phase, delayed hair appearance, delayed hair regrowth, dilated piliary canal, enlarged sebaceous gland, flaky skin, focal hair loss, hindlimb paralysis, increased sebocyte number, nervous system phenotype, sebaceous gland hyperplasia