Question: What is (are) Permanent neonatal diabetes mellitus ?
Answer: Permanent neonatal diabetes mellitus (PNDB) is a type of diabetes that appears within the first 6 months of life and persists throughout life. Affected individuals have slow growth before birth followed by hyperglycemia, dehydration and failure to thrive in infancy. Some individuals also have neurological problems including developmental delay and epilepsy; when these problems are present with PNDB, it is called DEND syndrome. A few individuals with PNDB also have an underdeveloped pancreas and may have digestive problems. PNDB is caused by mutations in any one of several genes (some of which have not yet been identified) including the KCNJ11, ABCC8, and INS genes. It may be inherited in an autosomal recessive or autosomal dominant manner. Treatment includes rehydration, insulin therapy and/or long-term therapy with oral sulfonylureas (in some cases).
Source: GARD

Question: What are the symptoms of Permanent neonatal diabetes mellitus ?
Answer: What are the signs and symptoms of Permanent neonatal diabetes mellitus? The Human Phenotype Ontology provides the following list of signs and symptoms for Permanent neonatal diabetes mellitus. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the ear - Abnormality of the immune system - Anteverted nares - Autosomal dominant inheritance - Beta-cell dysfunction - Clinodactyly - Diabetes mellitus - Downturned corners of mouth - Hyperglycemia - Hypsarrhythmia - Intrauterine growth retardation - Ketoacidosis - Limb joint contracture - Long philtrum - Motor delay - Muscle weakness - Muscular hypotonia of the trunk - Peripheral neuropathy - Prominent metopic ridge - Ptosis - Radial deviation of finger - Seizures - Small for gestational age - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Source: GARD