Human (107 sources):
Abnormal C-peptide level,
Abnormal brain FDG positron emission tomography,
Abnormal circulating fatty-acid concentration,
Abnormal heart morphology,
Abnormal insulin level,
Abnormal oral glucose tolerance,
Abnormality of the ear,
Abnormality of the genitourinary system,
Abnormality of the immune system,
Abnormality of the kidney,
Abnormality of the pancreatic islet cells,
Abnormality of the upper urinary tract,
Abnormality of the urinary system,
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,
Decreased waist to hip ratio,
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,
Hyperreflexia,
Hypoglycemia,
Hypoglycemic coma,
Hypoglycemic seizures,
Hypoinsulinemia,
Hypoketotic hypoglycemia,
Hypotonia,
Hypovolemia,
Hypsarrhythmia,
Insulin resistance,
Insulin-resistant diabetes mellitus,
Intellectual disability,
Intellectual disability, severe,
Intrauterine growth retardation,
Irritability,
Ketoacidosis,
Ketonuria,
Large for gestational age,
Lethargy,
Limb joint contracture,
Long philtrum,
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,
Spasticity,
Steatorrhea,
Strabismus,
Tachycardia,
Thickened ears,
Transient neonatal diabetes mellitus,
Type II diabetes mellitus,
Vomiting,
Weight loss
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Gene expression phenotype annotations where the gene of interest has been
disrupted (manipulated) or is the gene assayed (assayed). Computed annotations are derived from
differential expression analysis from Xenbase processed GEO data with the criteria of a TPM >= 1,
FDR <= 0.05 and an absolute LogFC >= 2.