Basal ganglia calcification, Brain atrophy, CSF lymphocytic pleiocytosis, Calcification of the aorta, Cardiomegaly, Cerebral calcification, Chilblains, Chronic CSF lymphocytosis, Chronic lymphatic leukemia, Cutis marmorata, Deep white matter hypodensities, Degeneration of the striatum, Demyelinating peripheral neuropathy, Developmental glaucoma, Developmental regression, Diabetes mellitus, Difficulty walking, Dry skin, Dystonia, Elevated circulating hepatic transaminase concentration, Enchondroma, Extrapyramidal muscular rigidity, Eyelid coloboma, Feeding difficulties in infancy, Flexion contracture, Glaucoma, Global developmental delay, Headache, Hemiplegia/hemiparesis, Hepatosplenomegaly, Hoarse voice, Hypertrophic cardiomyopathy, Hypoplasia of the corpus callosum, Hypothyroidism, Increased CSF interferon alpha, Increased serum interferon-gamma level, Intellectual disability, profound, Irritability, Large beaked nose, Leukodystrophy, Leukoencephalopathy, Lipoatrophy, Loss of speech, Low-set ears, Microcephaly, Micropenis, Moyamoya phenomenon, Multifocal cerebral white matter abnormalities, Multiple joint contractures, Muscle stiffness, Myositis, Neonatal alloimmune thrombocytopenia, Nystagmus, Panniculitis, Plagiocephaly, Porencephalic cyst, Prolonged neonatal jaundice, Ptosis, Raynaud phenomenon, Scaling skin, Scoliosis, Seizure, Short stature, Spastic paraparesis, Spastic tetraplegia, Spasticity, Thrombocytopenia, Tremor, Unexplained fevers, Ventriculomegaly