Corpus callosum atrophy, Decreased sweating due to autonomic dysfunction, Depression, Diffuse leukoencephalopathy, Dilatation of the bladder, Dysarthria, Dysphagia, Gait disturbance, Gliosis, Global developmental delay, Hearing impairment, Hyperreflexia, Hypohidrosis, Hypotension, Impotence, Intellectual disability, mild, Leukodystrophy, Nystagmus, Orthostatic hypotension due to autonomic dysfunction, Personality changes, Progressive neurologic deterioration, Pseudobulbar paralysis, Spasticity, Symmetric peripheral demyelination, Tetraparesis, Tremor, Urinary urgency, Visual loss

abnormal sagittal suture morphology, abnormal spatial learning, abnormal spatial reference memory, abnormal spike wave discharge, abnormal stratification in cerebral cortex, abnormal thoracic vertebrae morphology, absent pulmonary alveoli, behavior/neurological phenotype, clonic seizures, decreased brain size, decreased cell proliferation, decreased circulating alkaline phosphatase level, decreased embryo size, decreased fetal size, decreased midbrain size, delayed bone ossification, hypermyelination, impaired lung alveolus development, increased mean corpuscular hemoglobin, increased susceptibility to pharmacologically induced seizures, neonatal lethality, complete penetrance, nervous system phenotype, straub tail, thin diaphragm muscle