Eczematoid dermatitis, Elevated circulating hepatic transaminase concentration, Enlargement of the costochondral junction, Epistaxis, Exocrine pancreatic insufficiency, Failure to thrive, Gait disturbance, Generalized hypotonia, Gingival bleeding, Global developmental delay, Growth delay, Hepatomegaly, Ichthyosis, Intellectual disability, Intellectual disability, mild, Irregular ossification at anterior rib ends, Leukemia, Malabsorption, Metaphyseal chondrodysplasia, Metaphyseal sclerosis, Metaphyseal widening, Microdontia, Myelodysplasia, Myocardial necrosis, Narrow chest, Neonatal respiratory distress, Nephrocalcinosis, Neutropenia, Osteopenia, Ovoid vertebral bodies, Pancytopenia, Pectus carinatum, Persistence of hemoglobin F, Proximal femoral epiphysiolysis, Proximal femoral metaphyseal irregularity, Recurrent aphthous stomatitis, Recurrent infections, Respiratory distress, Reticulocytopenia, Retinal hemorrhage, Scoliosis, Short stature, Short thorax, Small for gestational age, Specific learning disability, Steatorrhea, Thrombocytopenia, Type I diabetes mellitus

embryo phenotype, embryonic growth arrest, embryonic lethality between implantation and somite formation, complete penetrance, embryonic lethality, complete penetrance, failure to gastrulate, impaired hematopoiesis, no abnormal phenotype detected, pancreas lipomatosis, pancreatic acinar hypoplasia, small pancreas