Phenotypes associated with the disease Microcephalic primordial dwarfism-insulin resistance syndrome (ORPHA:436182):
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:436182)
- Insulin-resistant diabetes mellitus (HP:0000831): A type of diabetes mellitus related not to lack of insulin but rather to lack of response to insulin on the part of the target tissues of insulin such as muscle, fat, and liver cells. This type of diabetes is typically associated with increases both in blood glucose concentrations as well as in fasting and postprandial serum insulin levels. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:436182)
- Hepatic steatosis (HP:0001397): Steatosis is a term used to denote lipid accumulation within hepatocytes. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:436182)
- Hypertriglyceridemia (HP:0002155): An abnormal increase in the level of triglycerides in the blood. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:436182)
- Primary gonadal insufficiency (HP:0008193). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:436182)
- Severe short-limb dwarfism (HP:0008890). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:436182)
- Malar prominence (HP:0010620): Prominence of the malar process of the maxilla and infraorbital area appreciated in profile and from in front of the face. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:436182)
- Retinal detachment (HP:0000541): Separation of the inner layers of the retina (neural retina) from the pigment epithelium. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:436182)
- Congenital blindness (HP:0007875): Blindness with onset at birth. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:436182)