Rank (Similarity) |
PMID (PMCID) |
|
---|---|---|
1 (27.8%) |
23532965 |
Familial microdeletion of 17q24.3 upstream of SOX9 is associated with isolated Pierre Robin sequence due to position effect. Amarillo IE, Dipple KM, Quintero-Rivera F. Am J Med Genet A. 2013;161A(5):1167-72. |
Glossoptosis | ||
SOX9 | ||
Chromosome Deletion Chromosomes, Human, Pair 17 Females Fibromatosis, Gingival Homo sapiens Hypertrichosis Infant Oligonucleotide Array Sequence Analysis Pierre Robin Syndrome SOX9 Transcription Factor |
Total: 6
HPO ID | Term | Frequency |
---|---|---|
HP:0000162 | Glossoptosis | Very frequent (99-80%) |
HP:0000175 | Cleft palate | Very frequent (99-80%) |
HP:0000347 | Micrognathia | Very frequent (99-80%) |
HP:0000600 | Abnormality of the pharynx | Frequent (79-30%) |
HP:0002643 | Neonatal respiratory distress | Frequent (79-30%) |
HP:0002781 | Upper airway obstruction | Frequent (79-30%) |
Total: 0
HPO ID | Term | # of case reports |
---|