| Rank (Similarity) |
PMID (PMCID) |
|---|
|
|
Total: 63
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000277 | Abnormality of the mandible | Very frequent (99-80%) |
| HP:0000298 | Mask-like facies | Very frequent (99-80%) |
| HP:0000324 | Facial asymmetry | Very frequent (99-80%) |
| HP:0000343 | Long philtrum | Very frequent (99-80%) |
| HP:0000358 | Posteriorly rotated ears | Very frequent (99-80%) |
| HP:0000465 | Webbed neck | Very frequent (99-80%) |
| HP:0001182 | Tapered finger | Very frequent (99-80%) |
| HP:0001357 | Plagiocephaly | Very frequent (99-80%) |
| HP:0001762 | Talipes equinovarus | Very frequent (99-80%) |
| HP:0001840 | Metatarsus adductus | Very frequent (99-80%) |
| HP:0002650 | Scoliosis | Very frequent (99-80%) |
| HP:0002804 | Arthrogryposis multiplex congenita | Very frequent (99-80%) |
| HP:0003202 | Skeletal muscle atrophy | Very frequent (99-80%) |
| HP:0005487 | Prominent metopic ridge | Very frequent (99-80%) |
| HP:0005988 | Congenital muscular torticollis | Very frequent (99-80%) |
| HP:0009465 | Ulnar deviation of finger | Very frequent (99-80%) |
| HP:0100490 | Camptodactyly of finger | Very frequent (99-80%) |
| HP:0000028 | Cryptorchidism | Frequent (79-30%) |
| HP:0000046 | Scrotal hypoplasia | Frequent (79-30%) |
| HP:0000160 | Narrow mouth | Frequent (79-30%) |
| HP:0000175 | Cleft palate | Frequent (79-30%) |
| HP:0000405 | Conductive hearing impairment | Frequent (79-30%) |
| HP:0000426 | Prominent nasal bridge | Frequent (79-30%) |
| HP:0000494 | Downslanted palpebral fissures | Frequent (79-30%) |
| HP:0000508 | Ptosis | Frequent (79-30%) |
| HP:0000601 | Hypotelorism | Frequent (79-30%) |
| HP:0000767 | Pectus excavatum | Frequent (79-30%) |
| HP:0001166 | Arachnodactyly | Frequent (79-30%) |
| HP:0001611 | Nasal speech | Frequent (79-30%) |
| HP:0002047 | Malignant hyperthermia | Frequent (79-30%) |
| HP:0002714 | Downturned corners of mouth | Frequent (79-30%) |
| HP:0003510 | Severe short stature | Frequent (79-30%) |
| HP:0006610 | Wide intermamillary distance | Frequent (79-30%) |
| HP:0009775 | Amniotic constriction ring | Frequent (79-30%) |
| HP:0011302 | Long palm | Frequent (79-30%) |
| HP:0012370 | Prominence of the zygomatic bone | Frequent (79-30%) |
| HP:0012400 | Abnormal aldolase level | Frequent (79-30%) |
| HP:0040081 | Abnormal circulating creatine kinase concentration | Frequent (79-30%) |
| HP:0045040 | Abnormal lactate dehydrogenase activity | Frequent (79-30%) |
| HP:0000023 | Inguinal hernia | Occasional (29-5%) |
| HP:0000187 | Broad alveolar ridges | Occasional (29-5%) |
| HP:0000268 | Dolichocephaly | Occasional (29-5%) |
| HP:0000293 | Full cheeks | Occasional (29-5%) |
| HP:0000340 | Sloping forehead | Occasional (29-5%) |
| HP:0000520 | Proptosis | Occasional (29-5%) |
| HP:0000772 | Abnormality of the ribs | Occasional (29-5%) |
| HP:0001252 | Muscular hypotonia | Occasional (29-5%) |
| HP:0001557 | Prenatal movement abnormality | Occasional (29-5%) |
| HP:0001561 | Polyhydramnios | Occasional (29-5%) |
| HP:0001804 | Hypoplastic fingernail | Occasional (29-5%) |
| HP:0001812 | Hyperconvex fingernails | Occasional (29-5%) |
| HP:0002094 | Dyspnea | Occasional (29-5%) |
| HP:0002263 | Exaggerated cupid's bow | Occasional (29-5%) |
| HP:0002808 | Kyphosis | Occasional (29-5%) |
| HP:0005306 | Capillary hemangioma | Occasional (29-5%) |
| HP:0006101 | Finger syndactyly | Occasional (29-5%) |
| HP:0006288 | Advanced eruption of teeth | Occasional (29-5%) |
| HP:0008402 | Ridged fingernail | Occasional (29-5%) |
| HP:0010733 | Naevus flammeus of the eyelid | Occasional (29-5%) |
| HP:0011800 | Midface retrusion | Occasional (29-5%) |
| HP:0040036 | Onychogryposis of fingernail | Occasional (29-5%) |
| HP:0100556 | Hemiatrophy | Occasional (29-5%) |
| HP:0100798 | Fingernail dysplasia | Occasional (29-5%) |
Total: 0
| HPO ID | Term | # of case reports |
|---|
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|