Rank (Similarity) |
PMID (PMCID) |
---|
|
Total: 10
HPO ID | Term | Frequency |
---|---|---|
HP:0001256 | Intellectual disability, mild | Frequent (79-30%) |
HP:0001263 | Global developmental delay | Frequent (79-30%) |
HP:0002061 | Lower limb spasticity | Frequent (79-30%) |
HP:0002378 | Hand tremor | Frequent (79-30%) |
HP:0006530 | Interstitial pulmonary abnormality | Frequent (79-30%) |
HP:0007020 | Progressive spastic paraplegia | Frequent (79-30%) |
HP:0009830 | Peripheral neuropathy | Frequent (79-30%) |
HP:0012447 | Abnormal myelination | Frequent (79-30%) |
HP:0100022 | Abnormality of movement | Frequent (79-30%) |
HP:0000100 | Nephrotic syndrome | Very rare (4-1%) |
Total: 0
HPO ID | Term | # of case reports |
---|