Cutaneous melanoma, Decreased circulating IgG level, Decreased circulating antibody level, Limb ataxia, Lymphadenitis, Lymphopenia, Meningitis, Myelokathexis, Neurological speech impairment, Neutropenia, Otitis media, Papilloma, Parotitis, Pharyngitis, Pneumonia, Poor fine motor coordination, Postural instability, Recurrent bacterial infections, Recurrent pneumonia, Recurrent upper respiratory tract infections, Respiratory tract infection, Seizure, Sepsis, Severe periodontitis, Sinusitis, Tetralogy of Fallot, Verrucae, Vitiligo

abnormal immune system organ morphology, abnormal leukocyte migration, abnormal leukopoiesis, abnormal lymph node B cell domain morphology, abnormal lymphopoiesis, abnormal muscle precursor cell migration, abnormal myogenesis, abnormal primordial germ cell migration, abnormal spleen white pulp morphology, abnormal thymus morphology, abnormal vascular smooth muscle morphology, abnormal vasculogenesis, absent cerebellar foliation, adipose tissue phenotype, cardiovascular system phenotype, decreased B cell apoptosis, decreased B-1 B cell number, decreased B-2 B cell number, decreased CD4-positive, alpha beta T cell number, decreased body size, decreased bone marrow cell number, decreased double-positive T cell number, decreased fetal size, decreased immature B cell number, decreased mature B cell number, decreased oxygen consumption, decreased plasma cell number, decreased primordial germ cell number, decreased pro-B cell number, decreased spleen weight, decreased susceptibility to Retroviridae infection, decreased susceptibility to induced arthritis, decreased thymocyte number, digestive/alimentary phenotype, duplex kidney, ectopic Purkinje cell, embryo phenotype, failure of myelopoiesis, growth/size/body region phenotype, homeostasis/metabolism phenotype, impaired adaptive thermogenesis, impaired myelopoiesis, increased CD8-positive, alpha-beta T cell number, increased NK cell number, increased brown adipose tissue mass, increased brown fat cell size, increased gonadal fat pad weight, increased mature B cell number, increased mesenteric fat pad weight, increased neutrophil cell number, increased retroperitoneal fat pad weight, increased subcutaneous adipose tissue amount, increased susceptibility to Retroviridae infection induced morbidity/mortality, increased susceptibility to diet-induced obesity, increased total body fat amount, increased white adipose tissue mass, increased white fat cell size, kidney hemorrhage, kidney vascular congestion, lethality throughout fetal growth and development, incomplete penetrance, neonatal lethality, complete penetrance, nervous system phenotype, perinatal lethality, complete penetrance, perinatal lethality, incomplete penetrance, poor arterial differentiation, small intestine hemorrhage, thick mitral valve cusps, thin external granule cell layer