Abnormality of the pancreatic islet cells, Abnormality of the upper urinary tract, Agitation, Anteverted nares, Apraxia, Arthrogryposis multiplex congenita, Ataxia, Axial hypotonia, Beta-cell dysfunction, Bilateral ptosis, Bilateral tonic-clonic seizure, Clinodactyly, Clinodactyly of the 4th finger, Cognitive impairment, Coma, Contractures of the joints of the lower limbs, Decreased circulating cortisol level, Decreased circulating vitamin B1 concentration, Dehydration, Diabetes mellitus, Diarrhea, Downturned corners of mouth, Drowsiness, Elevated hemoglobin A1c, Exocrine pancreatic insufficiency, Failure to thrive, Generalized myoclonic seizure, Global developmental delay, Glucose intolerance, Glycosuria, Hearing impairment, Hepatocellular adenoma, Hepatomegaly, Hyperglycemia, Hyperhidrosis, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Hypoinsulinemia, Hypoketotic hypoglycemia, Hypotonia, Hypovolemia, Hypsarrhythmia, Insulin-resistant diabetes mellitus, Intellectual disability, Intellectual disability, severe, Intrauterine growth retardation, Ketoacidosis, Ketonuria, Large for gestational age, Lethargy, Limb joint contracture, Long philtrum, Maternal diabetes, Maturity-onset diabetes of the young, Microcephaly, Mild global developmental delay, Moderate albuminuria, Motor delay, Muscle weakness, Neonatal hypoglycemia, Neonatal insulin-dependent diabetes mellitus, Nephropathy, Neurodevelopmental delay, Obesity, Overweight, Pallor, Pancreatic hypoplasia, Pancreatic islet-cell hyperplasia, Peripheral axonal neuropathy, Peripheral neuropathy, Progressive neurologic deterioration, Prominent metopic ridge, Ptosis, Radial deviation of finger, Reduced pancreatic beta cells, Renal cyst, Renal tubular dysfunction, Retinopathy, Secondary growth hormone deficiency, Seizure, Short nose, Small for gestational age, Steatorrhea, Tachycardia, Thickened ears, Transient neonatal diabetes mellitus, Vomiting, Weight loss

abnormal myocardial fiber physiology, abnormal nerve fiber response, abnormal nerve fiber response intensity, abnormal pancreatic alpha cell morphology, abnormal pancreatic beta cell morphology, abnormal pancreatic beta cell physiology, abnormal pancreatic islet morphology, abnormal spatial reference memory, convulsive seizures, decreased QRS amplitude, decreased abdominal fat pad weight, decreased aerobic running capacity, decreased anxiety-related response, decreased exploration in new environment, decreased fasting circulating glucose level, decreased glucagon secretion, decreased grip strength, decreased insulin secretion, decreased pancreas weight, decreased pancreatic alpha cell number, decreased pancreatic islet number, decreased susceptibility to diet-induced obesity, decreased vertical activity, homeostasis/metabolism phenotype, impaired balance, impaired skeletal muscle contractility, improved glucose tolerance, increased anxiety-related response, increased circulating atrial natriuretic factor, increased circulating glucose level, increased energy expenditure, increased insulin secretion, increased insulin sensitivity, increased mean systemic arterial blood pressure, increased oxygen consumption, increased pancreatic alpha cell number, increased sensitivity to induced morbidity/mortality, perinatal lethality, incomplete penetrance, pigmentation phenotype, premature death, slow postnatal weight gain, small pancreatic islets