Cerebellar vermis atrophy, Clinodactyly, Cognitive impairment, Deeply set eye, Depression, Diplopia, Dysarthria, Dysmetria, Dysphagia, Dystonia, Eyelid myokymia, Gait ataxia, Gaze-evoked horizontal nystagmus, Global developmental delay, Head tremor, Hirsutism, Horizontal nystagmus, Hyperintensity of cerebral white matter on MRI, Hypermetropia, Hyperreflexia, Hypertelorism, Hypometric saccades, Impaired vibration sensation at ankles, Impotence, Inability to walk, Intellectual disability, Loss of Purkinje cells in the cerebellar vermis, Mandibular prognathia, Microcephaly, Narrow palpebral fissure, Neurodevelopmental abnormality, Nystagmus, Oculomotor apraxia, Poor head control, Psoriasiform dermatitis, Reduced brain N-acetyl aspartate level by MRS, Resting tremor, Saccadic smooth pursuit, Scoliosis, Short nose, Sparse hair, Spastic ataxia, Spastic gait, Spasticity, Strabismus, Syndactyly, Tremor, Unsteady gait, Upper limb postural tremor, Upslanted palpebral fissure, Urinary incontinence, Urinary urgency, Vertigo

abnormal sleep pattern, abnormal spike wave discharge, behavior/neurological phenotype, decreased locomotor activity, decreased susceptibility to diet-induced obesity, decreased susceptibility to pharmacologically induced seizures, impaired ability to fire action potentials, impaired behavioral response to xenobiotic, prolonged PQ interval, thin cerebellar molecular layer