| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (66.3%) |
9632162 |
Teebi hypertelorism syndrome with tetralogy of Fallot. Nakagawa M, Kondo M, Matsui A. Am J Med Genet. 1998;77(5):345-7. |
| Anteverted nares Shallow orbits Small hand | ||
| Child, Preschool Craniofacial Abnormalities Exophthalmos Homo sapiens Male Syndrome Tetralogy of Fallot | ||
| 2 (64.9%) |
26111080 |
Expanding the SPECC1L mutation phenotypic spectrum to include Teebi hypertelorism syndrome. Bhoj EJ, Li D, Harr MH, Tian L, Wang T, Zhao Y, Qiu H, Kim C, Hoffman JD, Hakonarson H, Zackai EH. Am J Med Genet A. 2015;167A(11):2497-502. |
| Natal tooth Small hand | ||
| SPECC1L | ||
| c|DEL|1198_1203|ATACAC c|SUB|G|1260|C p|DEL|400,401|H p|SUB|E|420|D;RS#:755829276 | ||
| Base Sequence Child Child, Preschool Congenital Foot Deformity Congenital Hand Deformities Craniofacial Abnormalities DNA Mutational Analysis Facies Family Homo sapiens Infant Infant, Newborn Male Molecular Sequence Data Mutation Phenotype Phosphoproteins | ||
| 3 (64.7%) |
14564158 |
Teebi hypertelorism syndrome. Koenig R. Clin Dysmorphol. 2003;12(3):187-9. |
| Long philtrum Short neck Downslanted palpebral fissures Clinodactyly of the 5th finger | ||
| SMG1 | ||
| Adult Child, Preschool Females Forehead Genes, Dominant Homo sapiens Nose Phenotype | ||
| 4 (63.5%) |
8849013 |
Teebi hypertelorism syndrome: further observations. Tsukahara M, Uchida M, Shinohara T. Am J Med Genet. 1995;59(1):59-61. |
| Widow's peak Small hand | ||
| Child Family Females Homo sapiens Phenotype Syndrome | ||
| 5 (59.3%) |
12439902 |
Teebi hypertelorism syndrome: report of a family with previously unrecognized findings. Tsai AC, Robertson JR, Teebi AS. Am J Med Genet. 2002;113(3):302-6. |
| Long philtrum Finger clinodactyly | ||
| SON | ||
| Adult Child, Preschool Females Homo sapiens Infant Infant, Newborn Male | ||
| 6 (38.2%) |
16906548 |
Atrioventricular block and wiry hair in Teebi hypertelorism syndrome. Han XD, Cox V, Slavotinek A. Am J Med Genet A. 2006;140(18):1960-4. |
| Hypertelorism Widow's peak Long palpebral fissure Deep philtrum | ||
| Adult Child Child, Preschool Females Hair Hair Diseases Heart Block Homo sapiens Male Syndrome | ||
| 7 (36.8%) |
7894738 |
Teebi hypertelorism syndrome: report of a third family. Toriello HV, Delp K. Clin Dysmorphol. 1994;3(4):335-9. |
| Natal tooth Umbilical hernia | ||
| Adult Females Genes, Dominant Homo sapiens Infant Natal Teeth Syndrome | ||
| 8 (26.3%) |
1867268 |
Teebi hypertelorism syndrome (brachycephalofrontonasal dysplasia) in a U.S. family. Stratton RF. Am J Med Genet. 1991;39(1):78-80. |
| Broad nasal tip | ||
| Child, Preschool Females Homo sapiens Male Syndrome |
Total: 39
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000233 | Thin vermilion border | Very frequent (99-80%) |
| HP:0000316 | Hypertelorism | Very frequent (99-80%) |
| HP:0000343 | Long philtrum | Very frequent (99-80%) |
| HP:0000426 | Prominent nasal bridge | Very frequent (99-80%) |
| HP:0000574 | Thick eyebrow | Very frequent (99-80%) |
| HP:0002553 | Highly arched eyebrow | Very frequent (99-80%) |
| HP:0000028 | Cryptorchidism | Frequent (79-30%) |
| HP:0000049 | Shawl scrotum | Frequent (79-30%) |
| HP:0000232 | Everted lower lip vermilion | Frequent (79-30%) |
| HP:0000311 | Round face | Frequent (79-30%) |
| HP:0000349 | Widow's peak | Frequent (79-30%) |
| HP:0000369 | Low-set ears | Frequent (79-30%) |
| HP:0000431 | Wide nasal bridge | Frequent (79-30%) |
| HP:0000494 | Downslanted palpebral fissures | Frequent (79-30%) |
| HP:0000508 | Ptosis | Frequent (79-30%) |
| HP:0001156 | Brachydactyly | Frequent (79-30%) |
| HP:0001537 | Umbilical hernia | Frequent (79-30%) |
| HP:0001831 | Short toe | Frequent (79-30%) |
| HP:0003196 | Short nose | Frequent (79-30%) |
| HP:0004209 | Clinodactyly of the 5th finger | Frequent (79-30%) |
| HP:0004467 | Preauricular pit | Frequent (79-30%) |
| HP:0006101 | Finger syndactyly | Frequent (79-30%) |
| HP:0011039 | Abnormality of the helix | Frequent (79-30%) |
| HP:0011220 | Prominent forehead | Frequent (79-30%) |
| HP:0000086 | Ectopic kidney | Occasional (29-5%) |
| HP:0000202 | Oral cleft | Occasional (29-5%) |
| HP:0000248 | Brachycephaly | Occasional (29-5%) |
| HP:0000486 | Strabismus | Occasional (29-5%) |
| HP:0000520 | Proptosis | Occasional (29-5%) |
| HP:0000767 | Pectus excavatum | Occasional (29-5%) |
| HP:0001539 | Omphalocele | Occasional (29-5%) |
| HP:0001629 | Ventricular septal defect | Occasional (29-5%) |
| HP:0001631 | Atrial septal defect | Occasional (29-5%) |
| HP:0001636 | Tetralogy of Fallot | Occasional (29-5%) |
| HP:0001643 | Patent ductus arteriosus | Occasional (29-5%) |
| HP:0006288 | Advanced eruption of teeth | Occasional (29-5%) |
| HP:0010458 | Female pseudohermaphroditism | Occasional (29-5%) |
| HP:0010751 | Dimple chin | Occasional (29-5%) |
| HP:0011675 | Arrhythmia | Occasional (29-5%) |
Total: 24
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000316 | Hypertelorism | 4 |
| HP:0001537 | Umbilical hernia | 3 |
| HP:0011220 | Prominent forehead | 3 |
| HP:0000049 | Shawl scrotum | 1 |
| HP:0000086 | Ectopic kidney | 1 |
| HP:0000343 | Long philtrum | 1 |
| HP:0000349 | Widow's peak | 1 |
| HP:0000369 | Low-set ears | 1 |
| HP:0000455 | Broad nasal tip | 1 |
| HP:0000463 | Anteverted nares | 1 |
| HP:0000470 | Short neck | 1 |
| HP:0000494 | Downslanted palpebral fissures | 1 |
| HP:0000508 | Ptosis | 1 |
| HP:0000586 | Shallow orbits | 1 |
| HP:0000637 | Long palpebral fissure | 1 |
| HP:0000695 | Natal tooth | 1 |
| HP:0000767 | Pectus excavatum | 1 |
| HP:0001678 | Atrioventricular block | 1 |
| HP:0002007 | Frontal bossing | 1 |
| HP:0004209 | Clinodactyly of the 5th finger | 1 |
| HP:0005280 | Depressed nasal bridge | 1 |
| HP:0011229 | Broad eyebrow | 1 |
| HP:0040297 | Preauricular cyst | 1 |
| HP:0200055 | Small hand | 1 |