| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (37.2%) |
24039145 |
Homozygosity for a novel truncating mutation confirms TBX15 deficiency as the cause of Cousin syndrome. Dikoglu E, Simsek-Kiper PO, Utine GE, Campos-Xavier B, Boduroglu K, Bonafe L, Superti-Furga A, Unger S. Am J Med Genet A. 2013;161A(12):3161-5. |
| Short neck | ||
| TBX15 | ||
| c|SUB|C|841|T;RS#:771021441 p|SUB|R|281|* | ||
| Adult Codon, Nonsense Dwarfism Dysostoses Females Homo sapiens Homozygote Mutation Pelvis Phenotype Shoulder T-Box Domain Proteins | ||
| 2 (4.0%) |
19068278 |
TBX15 mutations cause craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature in Cousin syndrome. Lausch E, Hermanns P, Farin HF, Alanay Y, Unger S, Nikkel S, Steinwender C, Scherer G, Spranger J, Zabel B, Kispert A, Superti-Furga A. Am J Hum Genet. 2008;83(5):649-55. |
| Short stature | ||
| TBX15 | ||
| Body Height Child Craniofacial Abnormalities Females Homo sapiens Missense Mutation Mutation Pelvis Syndrome T-Box Domain Proteins Young Adult |
Total: 24
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000256 | Macrocephaly | Obligate (100%) |
| HP:0000470 | Short neck | Obligate (100%) |
| HP:0000882 | Hypoplastic scapulae | Obligate (100%) |
| HP:0000946 | Hypoplastic ilia | Obligate (100%) |
| HP:0001156 | Brachydactyly | Obligate (100%) |
| HP:0001374 | Congenital hip dislocation | Obligate (100%) |
| HP:0002987 | Elbow flexion contracture | Obligate (100%) |
| HP:0003041 | Humeroradial synostosis | Obligate (100%) |
| HP:0003097 | Short femur | Obligate (100%) |
| HP:0003943 | Abnormality of the joint spaces of the elbow | Obligate (100%) |
| HP:0004987 | Mesomelic leg shortening | Obligate (100%) |
| HP:0000369 | Low-set ears | Very frequent (99-80%) |
| HP:0002693 | Abnormality of the skull base | Very frequent (99-80%) |
| HP:0004322 | Short stature | Very frequent (99-80%) |
| HP:0000316 | Hypertelorism | Frequent (79-30%) |
| HP:0000365 | Hearing impairment | Frequent (79-30%) |
| HP:0000377 | Abnormality of the pinna | Frequent (79-30%) |
| HP:0000402 | Stenosis of the external auditory canal | Frequent (79-30%) |
| HP:0000486 | Strabismus | Frequent (79-30%) |
| HP:0000490 | Deeply set eye | Frequent (79-30%) |
| HP:0000581 | Blepharophimosis | Frequent (79-30%) |
| HP:0002007 | Frontal bossing | Frequent (79-30%) |
| HP:0002162 | Low posterior hairline | Frequent (79-30%) |
| HP:0005989 | Redundant neck skin | Frequent (79-30%) |
Total: 2
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0004322 | Short stature | 1 |
| HP:0005775 | Multiple skeletal anomalies | 1 |