Brain atrophy, CSF lymphocytic pleiocytosis, Calcification of the aorta, Cardiomegaly, Cerebral calcification, Chilblains, Chronic CSF lymphocytosis, Chronic lymphatic leukemia, Cutis marmorata, Degeneration of the striatum, Delayed myelination, Demyelinating peripheral neuropathy, Developmental glaucoma, Developmental regression, Diabetes mellitus, Difficulty walking, Dry skin, Dystonia, Elevated circulating hepatic transaminase concentration, Encephalopathy, Enchondroma, Extrapyramidal muscular rigidity, Eyelid coloboma, Generalized hypotonia, Glaucoma, Global developmental delay, Headache, Hemiplegia/hemiparesis, Hepatosplenomegaly, Hoarse voice, Hyperreflexia, Hypertrophic cardiomyopathy, Hypoplasia of the corpus callosum, Hypothyroidism, Hypotonia, Increased CSF interferon alpha, Increased serum interferon-gamma level, Intellectual disability, profound, Irritability, Large beaked nose, Leukodystrophy, 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, Progressive microcephaly, Prolonged neonatal jaundice, Ptosis, Raynaud phenomenon, Scoliosis, Seizure, Severe global developmental delay, Short stature, Spastic paraparesis, Spastic tetraplegia, Spasticity, Thrombocytopenia, Tremor, Unexplained fevers, Ventriculomegaly