Apraxia, Arthrogryposis multiplex congenita, Ataxia, Axial hypotonia, Beta-cell dysfunction, Bilateral ptosis, Bilateral tonic-clonic seizure, Clinodactyly, Coma, Contractures of the joints of the lower limbs, Dehydration, Diabetes mellitus, Diabetic ketoacidosis, Downturned corners of mouth, Elevated hemoglobin A1c, Exocrine pancreatic insufficiency, Failure to thrive, Generalized myoclonic seizure, Global developmental delay, Glucose intolerance, Glycosuria, Hearing impairment, Hepatocellular adenoma, Hyperglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoinsulinemia, Hypotonia, Hypovolemia, Hypsarrhythmia, Insulin-resistant diabetes mellitus, Intellectual disability, Intellectual disability, severe, Intrauterine growth retardation, Ketoacidosis, Ketonuria, Large for gestational age, Limb joint contracture, Long philtrum, Maturity-onset diabetes of the young, Moderate albuminuria, Motor delay, Muscle weakness, Neonatal hypoglycemia, Neonatal insulin-dependent diabetes mellitus, Nephropathy, Neurodevelopmental delay, Obesity, Overweight, Pancreatic hypoplasia, Peripheral axonal neuropathy, Peripheral neuropathy, Prominent metopic ridge, Ptosis, Radial deviation of finger, Reduced pancreatic beta cells, Renal cyst, Renal tubular dysfunction, Retinopathy, Seizure, Short nose, Small for gestational age, Transient neonatal diabetes mellitus, Type I diabetes mellitus, Weight loss

abnormal pancreatic islet morphology, abnormal response to transplant, abnormal retina ganglion layer morphology, abnormal retina neuronal layer morphology, abnormal retina vasculature morphology, absent pancreatic beta cells, decreased T cell proliferation, decreased adipocyte glucose uptake, decreased anti-insulin autoantibody level, decreased body fat mass, decreased insulin secretion, decreased liver triglyceride level, decreased locomotor activity, decreased muscle cell glucose uptake, decreased pancreatic alpha cell number, decreased pancreatic beta cell mass, decreased respiratory quotient, decreased triglyceride level, degranulated pancreatic beta cells, disorganized pancreatic islets, endocrine/exocrine gland phenotype, hematoma, hematopoietic system phenotype, homeostasis/metabolism phenotype, immune system phenotype, increased adipocyte glucose uptake, increased anti-insulin autoantibody level, increased anxiety-related response, increased carbon dioxide production, increased circulating glucose level, increased circulating ketone body level, increased energy expenditure, increased fluid intake, increased food intake, increased insulin secretion, increased insulin sensitivity, increased oxygen consumption, increased pancreatic alpha cell number, increased pancreatic beta cell mass, increased pancreatic beta cell number, increased pancreatic islet cell apoptosis, increased renal glomerular filtration rate, increased renal glomerulus basement membrane thickness, increased retina apoptosis, increased susceptibility to autoimmune diabetes, increased vascular permeability, insulitis, no abnormal phenotype detected, postnatal lethality, postnatal lethality, complete penetrance, premature death, renal glomerular protein deposits, salivary gland inflammation, small pancreatic islets, thick interventricular septum