| Rank (Similarity) |
PMID (PMCID) |
|---|
|
|
Total: 54
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000232 | Everted lower lip vermilion | Very frequent (99-80%) |
| HP:0000233 | Thin vermilion border | Very frequent (99-80%) |
| HP:0000348 | High forehead | Very frequent (99-80%) |
| HP:0000455 | Broad nasal tip | Very frequent (99-80%) |
| HP:0000490 | Deeply set eye | Very frequent (99-80%) |
| HP:0000582 | Upslanted palpebral fissure | Very frequent (99-80%) |
| HP:0001999 | Abnormal facial shape | Very frequent (99-80%) |
| HP:0002234 | Early balding | Very frequent (99-80%) |
| HP:0002292 | Frontal balding | Very frequent (99-80%) |
| HP:0003086 | Acromesomelia | Very frequent (99-80%) |
| HP:0010864 | Intellectual disability, severe | Very frequent (99-80%) |
| HP:0000054 | Micropenis | Frequent (79-30%) |
| HP:0000135 | Hypogonadism | Frequent (79-30%) |
| HP:0000219 | Thin upper lip vermilion | Frequent (79-30%) |
| HP:0000414 | Bulbous nose | Frequent (79-30%) |
| HP:0000635 | Blue irides | Frequent (79-30%) |
| HP:0001250 | Seizures | Frequent (79-30%) |
| HP:0002317 | Unsteady gait | Frequent (79-30%) |
| HP:0002751 | Kyphoscoliosis | Frequent (79-30%) |
| HP:0003065 | Patellar hypoplasia | Frequent (79-30%) |
| HP:0003199 | Decreased muscle mass | Frequent (79-30%) |
| HP:0003241 | External genital hypoplasia | Frequent (79-30%) |
| HP:0003758 | Reduced subcutaneous adipose tissue | Frequent (79-30%) |
| HP:0008734 | Decreased testicular size | Frequent (79-30%) |
| HP:0008947 | Infantile muscular hypotonia | Frequent (79-30%) |
| HP:0010499 | Patellar subluxation | Frequent (79-30%) |
| HP:0000218 | High palate | Occasional (29-5%) |
| HP:0000268 | Dolichocephaly | Occasional (29-5%) |
| HP:0000286 | Epicanthus | Occasional (29-5%) |
| HP:0000322 | Short philtrum | Occasional (29-5%) |
| HP:0000411 | Protruding ear | Occasional (29-5%) |
| HP:0000742 | Self-mutilation | Occasional (29-5%) |
| HP:0000957 | Cafe-au-lait spot | Occasional (29-5%) |
| HP:0001187 | Hyperextensibility of the finger joints | Occasional (29-5%) |
| HP:0001310 | Dysmetria | Occasional (29-5%) |
| HP:0001761 | Pes cavus | Occasional (29-5%) |
| HP:0001831 | Short toe | Occasional (29-5%) |
| HP:0001840 | Metatarsus adductus | Occasional (29-5%) |
| HP:0001956 | Truncal obesity | Occasional (29-5%) |
| HP:0002205 | Recurrent respiratory infections | Occasional (29-5%) |
| HP:0002313 | Spastic paraparesis | Occasional (29-5%) |
| HP:0002378 | Hand tremor | Occasional (29-5%) |
| HP:0002938 | Lumbar hyperlordosis | Occasional (29-5%) |
| HP:0002942 | Thoracic kyphosis | Occasional (29-5%) |
| HP:0002944 | Thoracolumbar scoliosis | Occasional (29-5%) |
| HP:0004691 | 2-3 toe syndactyly | Occasional (29-5%) |
| HP:0004692 | 4-5 toe syndactyly | Occasional (29-5%) |
| HP:0005469 | Flat occiput | Occasional (29-5%) |
| HP:0008414 | Lumbar kyphosis in infancy | Occasional (29-5%) |
| HP:0009738 | Abnormality of the antihelix | Occasional (29-5%) |
| HP:0011220 | Prominent forehead | Occasional (29-5%) |
| HP:0011800 | Midface retrusion | Occasional (29-5%) |
| HP:0011968 | Feeding difficulties | Occasional (29-5%) |
| HP:0030044 | Flexion contracture of digit | Occasional (29-5%) |
Total: 0
| HPO ID | Term | # of case reports |
|---|
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|