Arthritis, Atopic dermatitis, Autoimmunity, Basal ganglia calcification, Brain atrophy, Broad forehead, Calcification of the aorta, Cardiomegaly, Carious teeth, Cerebral atrophy, Cerebral calcification, Chilblains, Chronic CSF lymphocytosis, Chronic lymphatic leukemia, Congestive heart failure, Coxa valga, Cutaneous photosensitivity, Cutis marmorata, Decreased body weight, Degeneration of the striatum, Demyelinating peripheral neuropathy, Developmental glaucoma, Developmental regression, Diabetes mellitus, Difficulty walking, Dry skin, Dystonia, Elevated hepatic transaminase, Enchondroma, Expanded metacarpals with widened medullary cavities, Expanded metatarsals with widened medullary cavities, Expanded phalanges with widened medullary cavities, Extrapyramidal muscular rigidity, Eyelid coloboma, Feeding difficulties, Generalized hypotonia, Genu valgum, Glaucoma, Global developmental delay, Headache, Hemiplegia/hemiparesis, Hepatomegaly, Hepatosplenomegaly, High anterior hairline, Hip dislocation, Hip subluxation, Hoarse voice, Hypertrophic cardiomyopathy, Hypoplasia of the corpus callosum, Hypoplasia of the maxilla, Hypoplasia of the tooth germ, Hypoplastic distal radial epiphyses, Hypothyroidism, Increased CSF interferon alpha, Increased circulating antibody level, Increased serum interferon-gamma level, Intellectual disability, Intellectual disability, profound, Intrauterine growth retardation, Irritability, Large beaked nose, Leukodystrophy, Lipoatrophy, Loss of speech, Low-set ears, Microcephaly, Micropenis, Mitral valve calcification, Moyamoya phenomenon, Multifocal cerebral white matter abnormalities, Multiple joint contractures, Muscle fiber atrophy, Muscle stiffness, Muscle weakness, Muscular hypotonia, Muscular hypotonia of the trunk, Myopia, Myositis, Neonatal alloimmune thrombocytopenia, Nephrotic syndrome, Nystagmus, Onycholysis, Osteolytic defects of the phalanges of the hand, Osteoporosis, Panniculitis, Pes cavus, Plagiocephaly, Porencephalic cyst, Prolonged neonatal jaundice, Ptosis, Raynaud phenomenon, Recurrent respiratory infections, Scoliosis, Seizure, Shallow acetabular fossae, Short stature, Smooth philtrum, Spastic paraparesis, Spastic tetraparesis, Spastic tetraplegia, Spasticity, Splenomegaly, Subvalvular aortic stenosis, Talipes equinovarus, Tendon rupture, Thrombocytopenia, Tremor, Unerupted tooth, Unexplained fevers, Vasculitis, Ventriculomegaly, Waddling gait

decreased interferon-alpha secretion, decreased interleukin-6 secretion, decreased survivor rate, increased anti-double stranded DNA antibody level, increased anti-nuclear antigen antibody level, increased dendritic cell number, increased granulocyte number, increased macrophage cell number, increased plasma cell number, increased sensitivity to induced morbidity/mortality, increased susceptibility to Picornaviridae infection, increased susceptibility to systemic lupus erythematosus, mixed cellular infiltration to dermis, postnatal lethality