| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (54.3%) |
1884519 |
An apparently new mental retardation syndrome in three elderly sisters. Viljoen DL, Kallis J, Voges S, Marais AS, van Vuuren I. Clin Genet. 1991;40(1):6-11. |
| Microcephaly Prominent nose Brachydactyly | ||
| Congenital Foot Deformity Congenital Hand Deformities Females Genes, Recessive Homo sapiens Intellectual Disability Microcephaly Middle Aged Syndrome | ||
| 2 (27.8%) |
18274473 |
Talon cusps presenting in a child with Alagille's syndrome--a case report. Chatterjee M, Mason C. J Clin Pediatr Dent. 2007;32(1):61-3. |
| Talon cusp | ||
| Alagille Syndrome Child Females Homo sapiens Incisor Maxilla Tooth Abnormalities Tooth Crowns | ||
| 3 (21.2%) |
15940695 |
A novel filamin A D203Y mutation in a female patient with otopalatodigital type 1 syndrome and extremely skewed X chromosome inactivation. Hidalgo-Bravo A, Pompa-Mera EN, Kofman-Alfaro S, Gonzalez-Bonilla CR, Zenteno JC. Am J Med Genet A. 2005;136(2):190-3. |
| Skeletal dysplasia | ||
| p|SUB|D|203|Y;RS#:137853314 rs137853314 | ||
| Adult Base Sequence Bone Diseases, Developmental Chromosomes, Human, X Cleft Palate Contractile Proteins Craniofacial Abnormalities DNA DNA Mutational Analysis Females Filamins Growth Disorders Homo sapiens Microfilament Proteins Missense Mutation Syndactyly Syndrome | ||
| 4 (4.0%) |
26085772 (4453189) |
Tricuspid atresia and pulmonary atresia in a child with Rubinstein-Taybi syndrome. Loomba RS, Geddes G. Ann Pediatr Cardiol. 2015;8(2):157-60. |
| Intellectual disability | ||
Total: 27
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000175 | Cleft palate | Very frequent (99-80%) |
| HP:0000316 | Hypertelorism | Very frequent (99-80%) |
| HP:0000336 | Prominent supraorbital ridges | Very frequent (99-80%) |
| HP:0000365 | Hearing impairment | Very frequent (99-80%) |
| HP:0000431 | Wide nasal bridge | Very frequent (99-80%) |
| HP:0000494 | Downslanted palpebral fissures | Very frequent (99-80%) |
| HP:0000674 | Anodontia | Very frequent (99-80%) |
| HP:0000677 | Oligodontia | Very frequent (99-80%) |
| HP:0001256 | Intellectual disability, mild | Very frequent (99-80%) |
| HP:0001376 | Limitation of joint mobility | Very frequent (99-80%) |
| HP:0001852 | Sandal gap | Very frequent (99-80%) |
| HP:0002652 | Skeletal dysplasia | Very frequent (99-80%) |
| HP:0005280 | Depressed nasal bridge | Very frequent (99-80%) |
| HP:0010109 | Short hallux | Very frequent (99-80%) |
| HP:0001163 | Abnormality of the metacarpal bones | Frequent (79-30%) |
| HP:0002684 | Thickened calvaria | Frequent (79-30%) |
| HP:0002738 | Hypoplastic frontal sinuses | Frequent (79-30%) |
| HP:0003042 | Elbow dislocation | Frequent (79-30%) |
| HP:0004279 | Short palm | Frequent (79-30%) |
| HP:0006487 | Bowing of the long bones | Frequent (79-30%) |
| HP:0009623 | Proximal placement of thumb | Frequent (79-30%) |
| HP:0009778 | Short thumb | Frequent (79-30%) |
| HP:0009882 | Short distal phalanx of finger | Frequent (79-30%) |
| HP:0011001 | Increased bone mineral density | Frequent (79-30%) |
| HP:0001850 | Abnormality of the tarsal bones | Occasional (29-5%) |
| HP:0005048 | Synostosis of carpal bones | Occasional (29-5%) |
| HP:0005640 | Abnormal vertebral segmentation and fusion | Occasional (29-5%) |
Total: 1
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0002652 | Skeletal dysplasia | 1 |