| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (47.5%) |
14564155 |
Temtamy-like syndrome associated with translocation of 2p24 and 9q32. Talisetti A, Forrester SR, Gregory D, Johnson L, Schneider MC, Kimonis VE. Clin Dysmorphol. 2003;12(3):175-7. |
| Long philtrum Frontal bossing | ||
| Child, Preschool Chromosomes, Human, Pair 2 Chromosomes, Human, Pair 9 Face Females Homo sapiens | ||
| 2 (4.0%) |
17632789 |
Agenesis of the corpus callosum, optic coloboma, intractable seizures, craniofacial and skeletal dysmorphisms: an autosomal recessive disorder similar to Temtamy syndrome. Li J, Shivakumar S, Wakahiro M, Mukherjee P, Barkovich AJ, Slavotinek A, Sherr EH. Am J Med Genet A. 2007;143A(16):1900-5. |
| Coloboma | ||
| ASXL2 VAX1 ZNF462 | ||
| Adult Bone and Bones Brain Craniofacial Abnormalities Eye Abnormalities Females Genes, Recessive Homo sapiens Male Radionuclide Imaging Seizures Syndrome |
Total: 25
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000316 | Hypertelorism | Very frequent (99-80%) |
| HP:0000567 | Chorioretinal coloboma | Very frequent (99-80%) |
| HP:0000612 | Iris coloboma | Very frequent (99-80%) |
| HP:0001156 | Brachydactyly | Very frequent (99-80%) |
| HP:0001249 | Intellectual disability | Very frequent (99-80%) |
| HP:0001263 | Global developmental delay | Very frequent (99-80%) |
| HP:0001831 | Short toe | Very frequent (99-80%) |
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | Very frequent (99-80%) |
| HP:0000256 | Macrocephaly | Frequent (79-30%) |
| HP:0000268 | Dolichocephaly | Frequent (79-30%) |
| HP:0000276 | Long face | Frequent (79-30%) |
| HP:0000280 | Coarse facial features | Frequent (79-30%) |
| HP:0000347 | Micrognathia | Frequent (79-30%) |
| HP:0000369 | Low-set ears | Frequent (79-30%) |
| HP:0000444 | Convex nasal ridge | Frequent (79-30%) |
| HP:0001724 | obsolete Aortic dilatation | Frequent (79-30%) |
| HP:0001763 | Pes planus | Frequent (79-30%) |
| HP:0002970 | Genu varum | Frequent (79-30%) |
| HP:0000174 | Abnormal palate morphology | Occasional (29-5%) |
| HP:0000179 | Thick lower lip vermilion | Occasional (29-5%) |
| HP:0000324 | Facial asymmetry | Occasional (29-5%) |
| HP:0000506 | Telecanthus | Occasional (29-5%) |
| HP:0000568 | Microphthalmia | Occasional (29-5%) |
| HP:0004209 | Clinodactyly of the 5th finger | Occasional (29-5%) |
| HP:0005692 | Joint hyperflexibility | Occasional (29-5%) |
Total: 8
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000343 | Long philtrum | 1 |
| HP:0000369 | Low-set ears | 1 |
| HP:0000508 | Ptosis | 1 |
| HP:0000589 | Coloboma | 1 |
| HP:0001250 | Seizures | 1 |
| HP:0002007 | Frontal bossing | 1 |
| HP:0002119 | Ventriculomegaly | 1 |
| HP:0005280 | Depressed nasal bridge | 1 |