Cerebellar vermis atrophy, Cognitive impairment, Delayed early-childhood social milestone development, Delayed fine motor development, Delayed gross motor development, Delayed speech and language development, Dysarthria, Dysdiadochokinesis, Dysmetria, Dysmetric saccades, Gait ataxia, Gaze-evoked horizontal nystagmus, Generalized hypotonia, Global developmental delay, Head tremor, Hearing abnormality, Hyperreflexia, Hypoplasia of the iris, Hypotonia, Impaired smooth pursuit, Intellectual disability, Intention tremor, Limb ataxia, Mask-like facies, Motor delay, Neurological speech impairment, Nonprogressive cerebellar ataxia, Nystagmus, Oculomotor apraxia, Postural tremor, Scanning speech, Slurred speech, Tremor by anatomical site, Truncal ataxia, Upper limb postural tremor, Visual fixation instability, Visual impairment

abnormal locomotor coordination, absent long term depression, behavior/neurological phenotype, decreased body size, decreased brain size, decreased circulating bilirubin level, decreased insulin secretion, impaired balance, impaired righting response, lethality at weaning, complete penetrance, nervous system phenotype, postnatal lethality, incomplete penetrance, premature death, prenatal lethality, incomplete penetrance, preweaning lethality, complete penetrance, preweaning lethality, incomplete penetrance, small epididymis, thin cerebellar molecular layer, weakness