Choanal atresia, Cholangitis, Chronic diarrhea, Chronic lung disease, Cirrhosis, Clinodactyly, Dolichocephaly, Failure to thrive in infancy, Floppy infant, Frontal bossing, Gastrostomy tube feeding in infancy, Global developmental delay, Hepatitis, Hepatomegaly, Hepatosplenomegaly, Hypersplenism, Hypothyroidism, Insulin receptor antibody positivity, Low-set ears, Midface retrusion, obsolete Low-set, posteriorly rotated ears, Pancytopenia, Portal hypertension, Posteriorly rotated ears, Prominent occiput, Proptosis, Ptosis, Recurrent infections, Relative macrocephaly, Short chin, Splenomegaly, Thyroiditis, Type I diabetes mellitus

abnormal lymphopoiesis, abnormal lymph organ size, abnormal regulatory T cell physiology, abnormal startle reflex, abnormal T-helper 2 cell differentiation, abnormal T-helper 2 physiology, decreased bone mineral content, decreased CD4-positive, alpha beta T cell number, decreased circulating alkaline phosphatase level, decreased circulating fructosamine level, decreased circulating glucose level, decreased fasting circulating glucose level, decreased grip strength, decreased locomotor activity, dermatitis, enlarged gallbladder, enlarged lymph nodes, immune system phenotype, increased CD4-positive, alpha beta T cell number, increased CD8-positive, alpha-beta T cell number, increased IgG1 level, increased interleukin-10 secretion, increased interleukin-13 secretion, increased interleukin-17 secretion, increased interleukin-4 secretion, increased interleukin-5 secretion, increased lean body mass, increased regulatory T cell apoptosis, increased regulatory T cell number, increased thigmotaxis, premature death, skin lesions