| Rank (Similarity) |
PMID (PMCID) |
|---|
|
|
Total: 36
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0001249 | Intellectual disability | Very frequent (99-80%) |
| HP:0001263 | Global developmental delay | Very frequent (99-80%) |
| HP:0008936 | Muscular hypotonia of the trunk | Very frequent (99-80%) |
| HP:0001257 | Spasticity | Frequent (79-30%) |
| HP:0002064 | Spastic gait | Frequent (79-30%) |
| HP:0002151 | Increased serum lactate | Frequent (79-30%) |
| HP:0002465 | Poor speech | Frequent (79-30%) |
| HP:0003477 | Peripheral axonal neuropathy | Frequent (79-30%) |
| HP:0007210 | Lower limb amyotrophy | Frequent (79-30%) |
| HP:0000028 | Cryptorchidism | Occasional (29-5%) |
| HP:0000276 | Long face | Occasional (29-5%) |
| HP:0000303 | Mandibular prognathia | Occasional (29-5%) |
| HP:0000347 | Micrognathia | Occasional (29-5%) |
| HP:0000348 | High forehead | Occasional (29-5%) |
| HP:0000490 | Deeply set eye | Occasional (29-5%) |
| HP:0000518 | Cataract | Occasional (29-5%) |
| HP:0000545 | Myopia | Occasional (29-5%) |
| HP:0000565 | Esotropia | Occasional (29-5%) |
| HP:0000582 | Upslanted palpebral fissure | Occasional (29-5%) |
| HP:0000609 | Optic nerve hypoplasia | Occasional (29-5%) |
| HP:0000639 | Nystagmus | Occasional (29-5%) |
| HP:0000648 | Optic atrophy | Occasional (29-5%) |
| HP:0000768 | Pectus carinatum | Occasional (29-5%) |
| HP:0000823 | Delayed puberty | Occasional (29-5%) |
| HP:0001272 | Cerebellar atrophy | Occasional (29-5%) |
| HP:0001385 | Hip dysplasia | Occasional (29-5%) |
| HP:0001639 | Hypertrophic cardiomyopathy | Occasional (29-5%) |
| HP:0002066 | Gait ataxia | Occasional (29-5%) |
| HP:0002360 | Sleep disturbance | Occasional (29-5%) |
| HP:0002650 | Scoliosis | Occasional (29-5%) |
| HP:0003196 | Short nose | Occasional (29-5%) |
| HP:0003535 | 3-Methylglutaconic aciduria | Occasional (29-5%) |
| HP:0005656 | Positional foot deformity | Occasional (29-5%) |
| HP:0011968 | Feeding difficulties | Occasional (29-5%) |
| HP:0001250 | Seizures | Very rare (4-1%) |
| HP:0007957 | Corneal opacity | Very rare (4-1%) |
Total: 0
| HPO ID | Term | # of case reports |
|---|