Rank (Similarity) |
PMID (PMCID) |
---|
|
Total: 16
HPO ID | Term | Frequency |
---|---|---|
HP:0000465 | Webbed neck | Obligate (100%) |
HP:0000248 | Brachycephaly | Frequent (79-30%) |
HP:0000316 | Hypertelorism | Frequent (79-30%) |
HP:0000368 | Low-set, posteriorly rotated ears | Frequent (79-30%) |
HP:0000508 | Ptosis | Frequent (79-30%) |
HP:0000537 | Epicanthus inversus | Frequent (79-30%) |
HP:0000582 | Upslanted palpebral fissure | Frequent (79-30%) |
HP:0001249 | Intellectual disability | Frequent (79-30%) |
HP:0001290 | Generalized hypotonia | Frequent (79-30%) |
HP:0002553 | Highly arched eyebrow | Frequent (79-30%) |
HP:0006247 | Enlarged interphalangeal joints | Frequent (79-30%) |
HP:0009623 | Proximal placement of thumb | Frequent (79-30%) |
HP:0009662 | Abnormality of the epiphysis of the distal phalanx of the thumb | Frequent (79-30%) |
HP:0009836 | Broad distal phalanx of finger | Frequent (79-30%) |
HP:0025537 | Plantar edema | Frequent (79-30%) |
HP:0025538 | Palmar edema | Frequent (79-30%) |
Total: 0
HPO ID | Term | # of case reports |
---|
Total: 0
Gene Symbol | Gene Name | Entrez Gene ID |
---|