Phenotypes associated with the disease GRACILE syndrome (ORPHA:53693):
- Hearing impairment (HP:0000365): A decreased magnitude of the sensory perception of sound. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:53693)
- Cirrhosis (HP:0001394): A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:53693)
- Cholestasis (HP:0001396): Impairment of bile flow due to obstruction in bile ducts. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:53693)
- Hepatic steatosis (HP:0001397): Steatosis is a term used to denote lipid accumulation within hepatocytes. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:53693)
- Intrauterine growth retardation (HP:0001511): An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:53693)
- Renal Fanconi syndrome (HP:0001994): An inability of the tubules in the kidney to reabsorb small molecules, causing increased urinary loss of electrolytes (sodium, potassium, bicarbonate), minerals, glucose, amino acids, and water. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:53693)
- Lactic acidosis (HP:0003128): An abnormal buildup of lactic acid in the body, leading to acidification of the blood and other bodily fluids. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:53693)
- Increased circulating ferritin concentration (HP:0003281): Increased concentration of ferritin in the blood circulation. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:53693)
- Decreased transferrin saturation (HP:0012464): A below normal level of saturation of serum transferrin with iron. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:53693)
- Elevated hepatic iron concentration (HP:0012465): An increased level of iron in liver tissues. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:53693)
- Death in early adulthood (HP:0100613): Death between the age of 16 and 40 years. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:53693)