Enamel hypoplasia, Epicanthus, Failure to thrive, Generalized hypotonia, Global developmental delay, Hepatomegaly, Hyperbilirubinemia, Hyperkeratosis, Hypohidrosis, Immunodeficiency, Impaired T cell function, Inflammation of the large intestine, Intellectual disability, Intrauterine growth retardation, Loss of consciousness, Macrovesicular hepatic steatosis, Microcephaly, Micronodular cirrhosis, Palmoplantar hyperkeratosis, Pancytopenia, Postaxial polydactyly, Proximal tubulopathy, Recurrent infections, Retrognathia, Seizure, Splenomegaly, Thrombocytopenia, Type II transferrin isoform profile, Ventriculomegaly

abnormal vitelline vein connection, decreased CD4-positive NK T cell number, decreased CD8-positive, naive alpha-beta T cell number, decreased Ly6C-positive immature NK cell number, decreased Ly6C-positive mature NK cell number, decreased NK T cell number, decreased T-helper cell number, decreased alpha-beta T cell number, decreased bone mineral content, decreased effector memory CD8-positive, alpha-beta T cell number, decreased erythrocyte cell number, decreased grip strength, decreased hematocrit, decreased hemoglobin content, decreased marginal zone B cell number, decreased mean corpuscular hemoglobin concentration, decreased memory-marker CD4-negative NK T cell number, decreased memory-marker CD4-positive NK T cell number, decreased memory-marker NK cell number, decreased memory-marker gamma-delta T cell number, decreased transitional stage T2 B cell number, dual inferior vena cava, fusion of vertebral arches, increased B-2 B cell number, increased CD4-negative NK T cell number, increased CD4-positive, CD25-positive, alpha-beta regulatory T cell number, increased CD4-positive, alpha beta T cell number, increased CD4-positive, alpha-beta memory T cell number, increased CD5-positive gamma-delta T cell number, increased KLRG1+ CD4 alpha beta T cell number, increased KLRG1+ CD8 alpha beta T cell number, increased KLRG1-positive CD4-positive, CD25-positive, alpha-beta regulatory T cell number, increased KLRG1-positive NK cell number, increased KLRG1-positive T-helper cell number, increased Ly6C high monocyte number, increased anti-nuclear antigen antibody level, increased circulating alkaline phosphatase level, increased circulating amylase level, increased effector memory T-helper cell number, increased follicular B cell number, increased gamma-delta T cell number, increased granulocyte number, increased memory CD4-positive, CD25-positive, alpha-beta regulatory T cell number, increased memory-marker NK cell number, increased memory-marker gamma-delta T cell number, increased plasma cell number, increased red blood cell distribution width, no abnormal phenotype detected, thin hypoglossal nerve, vertebral transformation