| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (66.3%) |
3174485 |
[Cohen syndrome. Contribution to its clinical delineation]. Lapetina F, Piantoni G, Canino R, Teza F, Ferrarini D. Pediatr Med Chir. 1988;10(2):217-21. |
| Short philtrum Micrognathia | ||
| Child Females Fingers Homo sapiens Micrognathism Syndrome Toes | ||
| 2 (62.2%) |
15211651 |
Cohen syndrome in the Ohio Amish. Falk MJ, Feiler HS, Neilson DE, Maxwell K, Lee JV, Segall SK, Robin NH, Wilhelmsen KC, Traskelin AL, Kolehmainen J, Lehesjoki AE, Wiznitzer M, Warman ML. Am J Med Genet A. 2004;128A(1):23-8. |
| Microcephaly Small hand | ||
| VPS13B | ||
| rs120074155 rs180177329 rs386834118 | ||
| Age of Onset Body Height Child Child, Preschool Chromosomes, Human, Pair 8 Females Homo sapiens Intellectual Disability Male Membrane Proteins Microcephaly Myopia Obesity Ohio Personality Phenotype Retinal Diseases Sibling Syndrome Vesicular Transport Proteins | ||
| 3 (61.8%) |
7791717 |
[Cohen syndrome. A new case and review of the literature]. Calzolari S, Ballardini M, De Marco P. Minerva Pediatr. 1995;47(3):83-7. |
| Open mouth Microcephaly Short philtrum Tapered finger | ||
| Child Fingers Homo sapiens Intellectual Disability Male Obesity Syndrome | ||
| 4 (60.5%) |
8062442 |
Multiple coagulation defects and the Cohen syndrome. Schlichtemeier TL, Tomlinson GE, Kamen BA, Waber LJ, Wilson GN. Clin Genet. 1994;45(4):212-6. |
| Open mouth Micrognathia | ||
| SERPINC1 | ||
| Blood Coagulation Disorders Blood Coagulation Factor Cerebral Hemorrhage Cerebrovascular Disorders Females Homo sapiens Intellectual Disability Male Marfan Syndrome Microcephaly Thrombophlebitis | ||
| 5 (57.8%) |
29634382 |
Early photoreceptor outer segment loss and retinoschisis in Cohen syndrome. Uyhazi KE, Binenbaum G, Carducci N, Zackai EH, Aleman TS. Ophthalmic Genet. 2018;39(3):399-404. |
| Micrognathia | ||
| Developmental Disabilities Females Fingers Gene Deletion Homo sapiens Infant Intellectual Disability Microcephaly Myopia Obesity Retinal Cone Retinal Degeneration Retinoschisis Vesicular Transport Proteins | ||
| 5 (57.8%) |
15333397 |
The anesthetic management of a patient with Cohen syndrome. Meng L, Quinlan JJ, Sullivan E. Anesth Analg. 2004;99(3):697-8, table of contents. |
| Microcephaly Micrognathia | ||
| Adult Craniofacial Abnormalities Females Homo sapiens Intellectual Disability Intubation, Intratracheal Magnetic Resonance Imaging Microcephaly Syndrome | ||
| 5 (57.8%) |
12503195 |
The Cohen syndrome: report of a case. Naritomi K, Chinen Y. Jpn J Hum Genet. 1997;42(3):457-9. |
| Micrognathia | ||
| Child Homo sapiens Intellectual Disability Male Obesity Syndrome | ||
| 5 (57.8%) |
7675274 |
[General anesthesia in Cohen syndrome. Report of a clinical case]. Cavaliere F, Cormaci S, Cormaci M, Alberti A. Minerva Anestesiol. 1995;61(4):163-6. |
| Micrognathia | ||
| Adult Bone and Bones Females General Anesthesia Homo sapiens Intellectual Disability Obesity | ||
| 9 (47.5%) |
8832131 |
Cohen syndrome: the clinical symptoms and stigmata at a young age. Fryns JP, Legius E, Devriendt K, Meire F, Standaert L, Baten E, Van den Berghe H. Clin Genet. 1996;49(5):237-41. |
| Progressive microcephaly Short philtrum | ||
| Child Diseases in Twins Females Follow-Up Studies Homo sapiens Intellectual Disability | ||
| 9 (47.5%) |
7246618 |
Cohen syndrome: further delineation and inheritance. Kousseff BG. Am J Med Genet. 1981;9(1):25-30. |
| Microcephaly Short philtrum | ||
| Body Height Child Congenital Hand Deformities Face Females Genes, Recessive Homo sapiens Intellectual Disability Male Microcephaly Obesity Phenotype Pregnancy Syndrome |
Total: 64
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000164 | Abnormality of the dentition | Very frequent (99-80%) |
| HP:0000194 | Open mouth | Very frequent (99-80%) |
| HP:0000212 | Gingival overgrowth | Very frequent (99-80%) |
| HP:0000252 | Microcephaly | Very frequent (99-80%) |
| HP:0000294 | Low anterior hairline | Very frequent (99-80%) |
| HP:0000322 | Short philtrum | Very frequent (99-80%) |
| HP:0000327 | Hypoplasia of the maxilla | Very frequent (99-80%) |
| HP:0000347 | Micrognathia | Very frequent (99-80%) |
| HP:0000426 | Prominent nasal bridge | Very frequent (99-80%) |
| HP:0000492 | Abnormal eyelid morphology | Very frequent (99-80%) |
| HP:0000494 | Downslanted palpebral fissures | Very frequent (99-80%) |
| HP:0000499 | Abnormal eyelash morphology | Very frequent (99-80%) |
| HP:0000527 | Long eyelashes | Very frequent (99-80%) |
| HP:0000545 | Myopia | Very frequent (99-80%) |
| HP:0000574 | Thick eyebrow | Very frequent (99-80%) |
| HP:0001135 | Chorioretinal dystrophy | Very frequent (99-80%) |
| HP:0001166 | Arachnodactyly | Very frequent (99-80%) |
| HP:0001182 | Tapered finger | Very frequent (99-80%) |
| HP:0001249 | Intellectual disability | Very frequent (99-80%) |
| HP:0001252 | Muscular hypotonia | Very frequent (99-80%) |
| HP:0001263 | Global developmental delay | Very frequent (99-80%) |
| HP:0001852 | Sandal gap | Very frequent (99-80%) |
| HP:0001875 | Neutropenia | Very frequent (99-80%) |
| HP:0002167 | Neurological speech impairment | Very frequent (99-80%) |
| HP:0002705 | High, narrow palate | Very frequent (99-80%) |
| HP:0009804 | Reduced number of teeth | Very frequent (99-80%) |
| HP:0010295 | Aplasia/Hypoplasia of the tongue | Very frequent (99-80%) |
| HP:0010669 | Hypoplasia of the zygomatic bone | Very frequent (99-80%) |
| HP:0011308 | Slender toe | Very frequent (99-80%) |
| HP:0000823 | Delayed puberty | Frequent (79-30%) |
| HP:0001000 | Abnormality of skin pigmentation | Frequent (79-30%) |
| HP:0001511 | Intrauterine growth retardation | Frequent (79-30%) |
| HP:0001513 | Obesity | Frequent (79-30%) |
| HP:0001531 | Failure to thrive in infancy | Frequent (79-30%) |
| HP:0001558 | Decreased fetal movement | Frequent (79-30%) |
| HP:0001572 | Macrodontia | Frequent (79-30%) |
| HP:0001612 | Weak cry | Frequent (79-30%) |
| HP:0002857 | Genu valgum | Frequent (79-30%) |
| HP:0002967 | Cubitus valgus | Frequent (79-30%) |
| HP:0004209 | Clinodactyly of the 5th finger | Frequent (79-30%) |
| HP:0004283 | Narrow palm | Frequent (79-30%) |
| HP:0004322 | Short stature | Frequent (79-30%) |
| HP:0005692 | Joint hyperflexibility | Frequent (79-30%) |
| HP:0006101 | Finger syndactyly | Frequent (79-30%) |
| HP:0008872 | Feeding difficulties in infancy | Frequent (79-30%) |
| HP:0100874 | Thick hair | Frequent (79-30%) |
| HP:0200046 | Cat cry | Frequent (79-30%) |
| HP:0000028 | Cryptorchidism | Occasional (29-5%) |
| HP:0000384 | Preauricular skin tag | Occasional (29-5%) |
| HP:0000407 | Sensorineural hearing impairment | Occasional (29-5%) |
| HP:0000486 | Strabismus | Occasional (29-5%) |
| HP:0000568 | Microphthalmia | Occasional (29-5%) |
| HP:0000612 | Iris coloboma | Occasional (29-5%) |
| HP:0000639 | Nystagmus | Occasional (29-5%) |
| HP:0000648 | Optic atrophy | Occasional (29-5%) |
| HP:0000767 | Pectus excavatum | Occasional (29-5%) |
| HP:0001250 | Seizures | Occasional (29-5%) |
| HP:0001629 | Ventricular septal defect | Occasional (29-5%) |
| HP:0001634 | Mitral valve prolapse | Occasional (29-5%) |
| HP:0002650 | Scoliosis | Occasional (29-5%) |
| HP:0002808 | Kyphosis | Occasional (29-5%) |
| HP:0003272 | Abnormality of the hip bone | Occasional (29-5%) |
| HP:0007703 | Abnormality of retinal pigmentation | Occasional (29-5%) |
| HP:0009906 | Aplasia/Hypoplasia of the earlobes | Occasional (29-5%) |
Total: 38
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0001956 | Truncal obesity | 8 |
| HP:0001513 | Obesity | 7 |
| HP:0000252 | Microcephaly | 6 |
| HP:0001875 | Neutropenia | 5 |
| HP:0000347 | Micrognathia | 4 |
| HP:0000545 | Myopia | 3 |
| HP:0004322 | Short stature | 3 |
| HP:0000322 | Short philtrum | 2 |
| HP:0000842 | Hyperinsulinemia | 2 |
| HP:0001382 | Joint hypermobility | 2 |
| HP:0001913 | Granulocytopenia | 2 |
| HP:0000194 | Open mouth | 1 |
| HP:0000426 | Prominent nasal bridge | 1 |
| HP:0000505 | Visual impairment | 1 |
| HP:0000580 | Pigmentary retinopathy | 1 |
| HP:0000822 | Hypertension | 1 |
| HP:0000824 | Growth hormone deficiency | 1 |
| HP:0000855 | Insulin resistance | 1 |
| HP:0000956 | Acanthosis nigricans | 1 |
| HP:0001135 | Chorioretinal dystrophy | 1 |
| HP:0001166 | Arachnodactyly | 1 |
| HP:0001249 | Intellectual disability | 1 |
| HP:0001250 | Seizures | 1 |
| HP:0001263 | Global developmental delay | 1 |
| HP:0001297 | Stroke | 1 |
| HP:0001388 | Joint laxity | 1 |
| HP:0001601 | Laryngomalacia | 1 |
| HP:0002020 | Gastroesophageal reflux | 1 |
| HP:0002170 | Intracranial hemorrhage | 1 |
| HP:0002625 | Deep venous thrombosis | 1 |
| HP:0002652 | Skeletal dysplasia | 1 |
| HP:0002751 | Kyphoscoliosis | 1 |
| HP:0002808 | Kyphosis | 1 |
| HP:0008443 | Spinal deformities | 1 |
| HP:0025356 | Psychomotor retardation | 1 |
| HP:0030502 | Retinoschisis | 1 |
| HP:0100774 | Hyperostosis | 1 |
| HP:0100790 | Hernia | 1 |