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

abnormal lean body mass, abnormal locomotor activation, abnormal lymph organ size, abnormal lymphopoiesis, abnormal regulatory T cell physiology, abnormal startle reflex, decreased CD4-positive, alpha beta T cell number, decreased bone mineral content, 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