| Rank (Similarity) |
PMID (PMCID) |
|---|
|
|
Total: 45
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000135 | Hypogonadism | Very frequent (99-80%) |
| HP:0000486 | Strabismus | Very frequent (99-80%) |
| HP:0000518 | Cataract | Very frequent (99-80%) |
| HP:0001249 | Intellectual disability | Very frequent (99-80%) |
| HP:0001251 | Ataxia | Very frequent (99-80%) |
| HP:0001252 | Muscular hypotonia | Very frequent (99-80%) |
| HP:0001260 | Dysarthria | Very frequent (99-80%) |
| HP:0001263 | Global developmental delay | Very frequent (99-80%) |
| HP:0001321 | Cerebellar hypoplasia | Very frequent (99-80%) |
| HP:0001328 | Specific learning disability | Very frequent (99-80%) |
| HP:0001460 | Aplasia/Hypoplasia involving the skeletal musculature | Very frequent (99-80%) |
| HP:0001618 | Dysphonia | Very frequent (99-80%) |
| HP:0002167 | Neurological speech impairment | Very frequent (99-80%) |
| HP:0002334 | Abnormality of the cerebellar vermis | Very frequent (99-80%) |
| HP:0003198 | Myopathy | Very frequent (99-80%) |
| HP:0003241 | External genital hypoplasia | Very frequent (99-80%) |
| HP:0003510 | Severe short stature | Very frequent (99-80%) |
| HP:0012400 | Abnormal aldolase level | Very frequent (99-80%) |
| HP:0040081 | Abnormal circulating creatine kinase concentration | Very frequent (99-80%) |
| HP:0045040 | Abnormal lactate dehydrogenase activity | Very frequent (99-80%) |
| HP:0000639 | Nystagmus | Frequent (79-30%) |
| HP:0000768 | Pectus carinatum | Frequent (79-30%) |
| HP:0001156 | Brachydactyly | Frequent (79-30%) |
| HP:0001163 | Abnormality of the metacarpal bones | Frequent (79-30%) |
| HP:0001167 | Abnormality of finger | Frequent (79-30%) |
| HP:0001257 | Spasticity | Frequent (79-30%) |
| HP:0001276 | Hypertonia | Frequent (79-30%) |
| HP:0001385 | Hip dysplasia | Frequent (79-30%) |
| HP:0002063 | Rigidity | Frequent (79-30%) |
| HP:0002650 | Scoliosis | Frequent (79-30%) |
| HP:0002673 | Coxa valga | Frequent (79-30%) |
| HP:0002827 | Hip dislocation | Frequent (79-30%) |
| HP:0003202 | Skeletal muscle atrophy | Frequent (79-30%) |
| HP:0003552 | Muscle stiffness | Frequent (79-30%) |
| HP:0003560 | Muscular dystrophy | Frequent (79-30%) |
| HP:0004279 | Short palm | Frequent (79-30%) |
| HP:0005743 | Avascular necrosis of the capital femoral epiphysis | Frequent (79-30%) |
| HP:0010508 | Metatarsus valgus | Frequent (79-30%) |
| HP:0010547 | Muscle flaccidity | Frequent (79-30%) |
| HP:0100660 | Dyskinesia | Frequent (79-30%) |
| HP:0000252 | Microcephaly | Occasional (29-5%) |
| HP:0000648 | Optic atrophy | Occasional (29-5%) |
| HP:0001265 | Hyporeflexia | Occasional (29-5%) |
| HP:0001284 | Areflexia | Occasional (29-5%) |
| HP:0009830 | Peripheral neuropathy | Occasional (29-5%) |
Total: 0
| HPO ID | Term | # of case reports |
|---|