| Rank (Similarity) |
PMID (PMCID) |
|---|
|
|
Total: 51
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000218 | High palate | Frequent (79-30%) |
| HP:0000252 | Microcephaly | Frequent (79-30%) |
| HP:0000319 | Smooth philtrum | Frequent (79-30%) |
| HP:0000343 | Long philtrum | Frequent (79-30%) |
| HP:0000347 | Micrognathia | Frequent (79-30%) |
| HP:0000368 | Low-set, posteriorly rotated ears | Frequent (79-30%) |
| HP:0000648 | Optic atrophy | Frequent (79-30%) |
| HP:0000750 | Delayed speech and language development | Frequent (79-30%) |
| HP:0000768 | Pectus carinatum | Frequent (79-30%) |
| HP:0000954 | Single transverse palmar crease | Frequent (79-30%) |
| HP:0001007 | Hirsutism | Frequent (79-30%) |
| HP:0001162 | Postaxial hand polydactyly | Frequent (79-30%) |
| HP:0001187 | Hyperextensibility of the finger joints | Frequent (79-30%) |
| HP:0001249 | Intellectual disability | Frequent (79-30%) |
| HP:0001263 | Global developmental delay | Frequent (79-30%) |
| HP:0001283 | Bulbar palsy | Frequent (79-30%) |
| HP:0001332 | Dystonia | Frequent (79-30%) |
| HP:0001508 | Failure to thrive | Frequent (79-30%) |
| HP:0001830 | Postaxial foot polydactyly | Frequent (79-30%) |
| HP:0001838 | Rocker bottom foot | Frequent (79-30%) |
| HP:0001999 | Abnormal facial shape | Frequent (79-30%) |
| HP:0002063 | Rigidity | Frequent (79-30%) |
| HP:0002071 | Abnormality of extrapyramidal motor function | Frequent (79-30%) |
| HP:0002079 | Hypoplasia of the corpus callosum | Frequent (79-30%) |
| HP:0002093 | Respiratory insufficiency | Frequent (79-30%) |
| HP:0002104 | Apnea | Frequent (79-30%) |
| HP:0002119 | Ventriculomegaly | Frequent (79-30%) |
| HP:0002267 | Exaggerated startle response | Frequent (79-30%) |
| HP:0002352 | Leukoencephalopathy | Frequent (79-30%) |
| HP:0002478 | Progressive spastic quadriplegia | Frequent (79-30%) |
| HP:0002509 | Limb hypertonia | Frequent (79-30%) |
| HP:0002521 | Hypsarrhythmia | Frequent (79-30%) |
| HP:0002536 | Abnormal cortical gyration | Frequent (79-30%) |
| HP:0002808 | Kyphosis | Frequent (79-30%) |
| HP:0003196 | Short nose | Frequent (79-30%) |
| HP:0005781 | Contractures of the large joints | Frequent (79-30%) |
| HP:0007514 | Edema of the dorsum of hands | Frequent (79-30%) |
| HP:0008278 | Cerebellar cortical atrophy | Frequent (79-30%) |
| HP:0010804 | Tented upper lip vermilion | Frequent (79-30%) |
| HP:0011398 | Central hypotonia | Frequent (79-30%) |
| HP:0011968 | Feeding difficulties | Frequent (79-30%) |
| HP:0012098 | Edema of the dorsum of feet | Frequent (79-30%) |
| HP:0012448 | Delayed myelination | Frequent (79-30%) |
| HP:0012762 | Cerebral white matter atrophy | Frequent (79-30%) |
| HP:0031162 | Impaired oropharyngeal swallow response | Frequent (79-30%) |
| HP:0100807 | Long fingers | Frequent (79-30%) |
| HP:0000407 | Sensorineural hearing impairment | Occasional (29-5%) |
| HP:0000639 | Nystagmus | Occasional (29-5%) |
| HP:0000975 | Hyperhidrosis | Occasional (29-5%) |
| HP:0001250 | Seizures | Occasional (29-5%) |
| HP:0002483 | Bulbar signs | Occasional (29-5%) |
Total: 0
| HPO ID | Term | # of case reports |
|---|