Overlapping fingers, Pachygyria, Prominent forehead, Recurrent aphthous stomatitis, Recurrent lower respiratory tract infections, Seizure, Sensorineural hearing impairment, Severe combined immunodeficiency, Short chin, Simplified gyral pattern, Thin upper lip vermilion, Visual impairment, Wide nasal bridge

abnormal colon morphology, abnormal hematopoietic stem cell physiology, abnormal humoral immune response, abnormal immunoglobulin V(D)J recombination, abnormal immunoglobulin heavy chain V(D)J recombination, abnormal immunoglobulin light chain V-J recombination, abnormal intestinal epithelium morphology, abnormal kidney morphology, abnormal large intestine crypts of Lieberkuhn morphology, abnormal level of surface class II molecules, abnormal lymph node B cell domain morphology, abnormal prepulse inhibition, abnormal response to transplant, abnormal spleen white pulp morphology, abnormal thymus corticomedullary boundary morphology, abnormal thymus lobule morphology, abnormal thymus morphology, absent Peyer's patches, absent T cells, absent mature B cells, absent pre-B cells, absent thymus cortex, absent thymus corticomedullary boundary, arrested B cell differentiation, arrested T cell differentiation, cecum inflammation, cellular phenotype, decreased B cell proliferation, decreased B-1 B cell number, decreased B-1a cell number, decreased CD4-positive, alpha beta T cell number, decreased CD8-positive, naive alpha-beta T cell number, decreased NK T cell number, decreased T cell proliferation, decreased alpha-beta T cell number, decreased bone marrow cell number, decreased double-negative T cell number, decreased double-positive T cell number, decreased effector memory CD4-positive, alpha-beta T cell number, decreased erythrocyte cell number, decreased gamma-delta T cell number, decreased granulocyte number, decreased hematopoietic stem cell number, decreased level of surface class I molecules, decreased macrophage cell number, decreased mature B cell number, decreased mean corpuscular hemoglobin concentration, decreased pre-B cell number, decreased prepulse inhibition, decreased single-positive T cell number, decreased spleen white pulp amount, decreased thymocyte apoptosis, decreased thymocyte number, enhanced humoral immune response, enlarged mesenteric lymph nodes, hematopoietic system phenotype, homeostasis/metabolism phenotype, hyperpigmentation, immune system phenotype, impaired complement classical pathway, impaired humoral immune response, impaired natural killer cell mediated cytotoxicity, increased B-1b cell number, increased CD4-positive, alpha beta T cell number, increased CD8-positive, alpha-beta T cell number, increased NK cell number, increased T cell derived lymphoma incidence, increased alpha-beta T cell number, increased bone marrow cell number, increased cellular sensitivity to X-ray irradiation, increased cellular sensitivity to alkylating agents, increased cellular sensitivity to gamma-irradiation, increased cellular sensitivity to ionizing radiation, increased cellular sensitivity to ultraviolet irradiation, increased central memory CD4-positive, alpha-beta T cell number, increased central memory CD8 positive, alpha-beta T cell number, increased circulating glucose level, increased double-negative T cell number, increased double-positive T cell number, increased effector memory CD4-positive, alpha-beta T cell number, increased effector memory CD8-positive, alpha-beta T cell number, increased granulocyte number, increased length of allograft survival, increased macrophage cell number, increased mortality induced by gamma-irradiation, increased mortality induced by ionizing radiation, increased neutrophil cell number, increased physiological sensitivity to xenobiotic, increased plasma cell number, increased plasmacytoid dendritic cell number, increased sensitivity to induced cell death, increased small intestinal crypt cell apoptosis, lymphoid hypoplasia, muscle phenotype, myeloid hyperplasia, nervous system phenotype, postnatal lethality, incomplete penetrance, premature death, preneoplasia, salivary gland inflammation, slow postnatal weight gain, small Peyer's patches, small lymph nodes, small lymphoid organs, small spleen, small thymus, thymus cyst