| Rank (Similarity) |
PMID (PMCID) |
|---|
|
|
Total: 24
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0002448 | Progressive encephalopathy | Very frequent (99-80%) |
| HP:0002497 | Spastic ataxia | Very frequent (99-80%) |
| HP:0003693 | Distal amyotrophy | Very frequent (99-80%) |
| HP:0007269 | Spinal muscular atrophy | Very frequent (99-80%) |
| HP:0001249 | Intellectual disability | Frequent (79-30%) |
| HP:0001260 | Dysarthria | Frequent (79-30%) |
| HP:0001263 | Global developmental delay | Frequent (79-30%) |
| HP:0001272 | Cerebellar atrophy | Frequent (79-30%) |
| HP:0001290 | Generalized hypotonia | Frequent (79-30%) |
| HP:0002079 | Hypoplasia of the corpus callosum | Frequent (79-30%) |
| HP:0002376 | Developmental regression | Frequent (79-30%) |
| HP:0003444 | EMG: chronic denervation signs | Frequent (79-30%) |
| HP:0003477 | Peripheral axonal neuropathy | Frequent (79-30%) |
| HP:0003698 | Difficulty standing | Frequent (79-30%) |
| HP:0009027 | Foot dorsiflexor weakness | Frequent (79-30%) |
| HP:0000648 | Optic atrophy | Occasional (29-5%) |
| HP:0001285 | Spastic tetraparesis | Occasional (29-5%) |
| HP:0002425 | Anarthria | Occasional (29-5%) |
| HP:0002650 | Scoliosis | Occasional (29-5%) |
| HP:0007199 | Progressive spastic paraparesis | Occasional (29-5%) |
| HP:0012678 | Iron accumulation in substantia nigra | Occasional (29-5%) |
| HP:0001250 | Seizures | Very rare (4-1%) |
| HP:0000829 | Hypoparathyroidism | Excluded (0%) |
| HP:0001510 | Growth delay | Excluded (0%) |
Total: 0
| HPO ID | Term | # of case reports |
|---|