| Rank (Similarity) |
PMID (PMCID) |
|---|
|
|
Total: 24
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000252 | Microcephaly | Very frequent (99-80%) |
| HP:0001360 | Holoprosencephaly | Very frequent (99-80%) |
| HP:0001376 | Limitation of joint mobility | Very frequent (99-80%) |
| HP:0001558 | Decreased fetal movement | Very frequent (99-80%) |
| HP:0002828 | Multiple joint contractures | Very frequent (99-80%) |
| HP:0006703 | Aplasia/Hypoplasia of the lungs | Very frequent (99-80%) |
| HP:0000340 | Sloping forehead | Frequent (79-30%) |
| HP:0000369 | Low-set ears | Frequent (79-30%) |
| HP:0000470 | Short neck | Frequent (79-30%) |
| HP:0100490 | Camptodactyly of finger | Frequent (79-30%) |
| HP:0100625 | Enlarged thorax | Frequent (79-30%) |
| HP:0000347 | Micrognathia | Occasional (29-5%) |
| HP:0000490 | Deeply set eye | Occasional (29-5%) |
| HP:0000581 | Blepharophimosis | Occasional (29-5%) |
| HP:0001181 | Adducted thumb | Occasional (29-5%) |
| HP:0001511 | Intrauterine growth retardation | Occasional (29-5%) |
| HP:0002103 | Abnormality of the pleura | Occasional (29-5%) |
| HP:0002120 | Cerebral cortical atrophy | Occasional (29-5%) |
| HP:0002324 | Hydranencephaly | Occasional (29-5%) |
| HP:0007360 | Aplasia/Hypoplasia of the cerebellum | Occasional (29-5%) |
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | Occasional (29-5%) |
| HP:0007477 | Abnormal dermatoglyphics | Occasional (29-5%) |
| HP:0008678 | Renal hypoplasia/aplasia | Occasional (29-5%) |
| HP:0010662 | Abnormality of the diencephalon | Occasional (29-5%) |
Total: 0
| HPO ID | Term | # of case reports |
|---|