Total: 11
HPO ID | Term | Frequency |
---|---|---|
HP:0000083 | Renal insufficiency | Frequent (79-30%) |
HP:0000590 | Progressive external ophthalmoplegia | Frequent (79-30%) |
HP:0001638 | Cardiomyopathy | Frequent (79-30%) |
HP:0004900 | Severe lactic acidosis | Frequent (79-30%) |
HP:0011344 | Severe global developmental delay | Frequent (79-30%) |
HP:0001250 | Seizures | Occasional (29-5%) |
HP:0001254 | Lethargy | Occasional (29-5%) |
HP:0001284 | Areflexia | Occasional (29-5%) |
HP:0002643 | Neonatal respiratory distress | Occasional (29-5%) |
HP:0006583 | Fatal liver failure in infancy | Occasional (29-5%) |
HP:0008935 | Generalized neonatal hypotonia | Occasional (29-5%) |
Total: 2
HPO ID | Term | # of case reports |
---|---|---|
HP:0001638 | Cardiomyopathy | 1 |
HP:0006789 | Mitochondrial encephalopathy | 1 |