Rank (Similarity) |
PMID (PMCID) |
|
---|---|---|
1 (51.2%) |
14556253 |
Craniofacial-deafness-hand syndrome revisited. Sommer A, Bartholomew DW. Am J Med Genet A. 2003;123A(1):91-4. |
Depressed nasal bridge Ulnar deviation of the hand | ||
PAX3 | ||
p|SUB|N|47|K;RS#:104893652 | ||
Adult Child Child, Preschool Craniofacial Abnormalities DNA-Binding Proteins Deafness Females Follow-Up Studies Homo sapiens Infant Male Missense Mutation PAX3 Transcription Factor Paired Box Transcription Factors Syndrome |
Total: 17
HPO ID | Term | Frequency |
---|---|---|
HP:0000160 | Narrow mouth | Very frequent (99-80%) |
HP:0000275 | Narrow face | Very frequent (99-80%) |
HP:0000316 | Hypertelorism | Very frequent (99-80%) |
HP:0000327 | Hypoplasia of the maxilla | Very frequent (99-80%) |
HP:0000407 | Sensorineural hearing impairment | Very frequent (99-80%) |
HP:0000457 | Depressed nasal ridge | Very frequent (99-80%) |
HP:0000494 | Downslanted palpebral fissures | Very frequent (99-80%) |
HP:0000564 | Lacrimal duct atresia | Very frequent (99-80%) |
HP:0000581 | Blepharophimosis | Very frequent (99-80%) |
HP:0003019 | Abnormality of the wrist | Very frequent (99-80%) |
HP:0003049 | Ulnar deviation of the wrist | Very frequent (99-80%) |
HP:0003196 | Short nose | Very frequent (99-80%) |
HP:0005280 | Depressed nasal bridge | Very frequent (99-80%) |
HP:0009465 | Ulnar deviation of finger | Very frequent (99-80%) |
HP:0009924 | Aplasia/Hypoplasia involving the nose | Very frequent (99-80%) |
HP:0012368 | Flat face | Very frequent (99-80%) |
HP:0100490 | Camptodactyly of finger | Frequent (79-30%) |
Total: 0
HPO ID | Term | # of case reports |
---|