| Rank (Similarity) |
PMID (PMCID) |
|---|
|
|
Total: 38
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0006980 | Progressive leukoencephalopathy | Very frequent (99-80%) |
| HP:0007133 | Progressive peripheral neuropathy | Very frequent (99-80%) |
| HP:0000093 | Proteinuria | Frequent (79-30%) |
| HP:0000124 | Renal tubular dysfunction | Frequent (79-30%) |
| HP:0000508 | Ptosis | Frequent (79-30%) |
| HP:0000580 | Pigmentary retinopathy | Frequent (79-30%) |
| HP:0000648 | Optic atrophy | Frequent (79-30%) |
| HP:0000750 | Delayed speech and language development | Frequent (79-30%) |
| HP:0001249 | Intellectual disability | Frequent (79-30%) |
| HP:0001250 | Seizures | Frequent (79-30%) |
| HP:0001251 | Ataxia | Frequent (79-30%) |
| HP:0001262 | Excessive daytime somnolence | Frequent (79-30%) |
| HP:0001263 | Global developmental delay | Frequent (79-30%) |
| HP:0001270 | Motor delay | Frequent (79-30%) |
| HP:0001288 | Gait disturbance | Frequent (79-30%) |
| HP:0001290 | Generalized hypotonia | Frequent (79-30%) |
| HP:0001410 | Decreased liver function | Frequent (79-30%) |
| HP:0001508 | Failure to thrive | Frequent (79-30%) |
| HP:0001639 | Hypertrophic cardiomyopathy | Frequent (79-30%) |
| HP:0001903 | Anemia | Frequent (79-30%) |
| HP:0001994 | Renal Fanconi syndrome | Frequent (79-30%) |
| HP:0002240 | Hepatomegaly | Frequent (79-30%) |
| HP:0002376 | Developmental regression | Frequent (79-30%) |
| HP:0002490 | Increased CSF lactate | Frequent (79-30%) |
| HP:0002747 | Respiratory insufficiency due to muscle weakness | Frequent (79-30%) |
| HP:0002875 | Exertional dyspnea | Frequent (79-30%) |
| HP:0003076 | Glycosuria | Frequent (79-30%) |
| HP:0003109 | Hyperphosphaturia | Frequent (79-30%) |
| HP:0003128 | Lactic acidosis | Frequent (79-30%) |
| HP:0003324 | Generalized muscle weakness | Frequent (79-30%) |
| HP:0003355 | Aminoaciduria | Frequent (79-30%) |
| HP:0006555 | Diffuse hepatic steatosis | Frequent (79-30%) |
| HP:0007256 | Abnormal pyramidal sign | Frequent (79-30%) |
| HP:0008619 | Bilateral sensorineural hearing impairment | Frequent (79-30%) |
| HP:0030195 | Fatigable weakness of swallowing muscles | Frequent (79-30%) |
| HP:0040291 | Skeletal muscle steatosis | Frequent (79-30%) |
| HP:0001285 | Spastic tetraparesis | Occasional (29-5%) |
| HP:0002013 | Vomiting | Occasional (29-5%) |
Total: 0
| HPO ID | Term | # of case reports |
|---|