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Prevalence (%) of clinical parameters based on data from 1 references describing 3 individuals
Add new symptom/sign to this disease
| Pubmed id number as a reference | Organ system affected | ||
| Number of patients in the reference | Percent affected patients (Between 0 and 1, eg. 0.1 = 10%) | ||
| Please provide your name and contact information as a reference | |||
| Name | Institute | Phone number | Email address |
List of symptoms
| Symptom/sign | Organ system | Percent affected | Pubmed id | Added on(yyyy-mm-dd) | Edit/add reference |
| Microcephaly | skeletal | 100 % | 35025765 | 2022-02-07 | |
| Short stature | skeletal | 100 % | 35025765 | 2022-02-07 | |
| Sun sensitivity | integumentary | 100 % | 35025765 | 2022-02-07 | |
| Xeroderma | integumentary | 100 % | 35025765 | 2022-02-07 | |
| Small nose | integumentary | 100 % | 35025765 | 2022-02-07 | |
| Anteverted nares | integumentary | 100 % | 35025765 | 2022-02-07 | |
| Smooth philtrum | integumentary | 100 % | 35025765 | 2022-02-07 | |
| Hypermobile joints | skeletal | 100 % | 35025765 | 2022-02-07 | |
| Long thumbs | skeletal | 100 % | 35025765 | 2022-02-07 | |
| Hyperconvex nails | integumentary | 100 % | 35025765 | 2022-02-07 | |
| Xerophthalmus | integumentary | 66 % | 35025765 | 2022-02-07 | |
| Thin lips | integumentary | 33 % | 35025765 | 2022-02-07 | |
| Deep-set eyes | skeletal | 33 % | 35025765 | 2022-02-07 | |
| Arachnodactyly | skeletal | 33 % | 35025765 | 2022-02-07 | |
| Muscle atrophy | skeletal | 33 % | 35025765 | 2022-02-07 | |
| Dental crowding | skeletal | 33 % | 35025765 | 2022-02-07 | |
| Anemia | circulatory | 33 % | 35025765 | 2022-02-07 | |
| Thrombocytopenia | circulatory | 33 % | 35025765 | 2022-02-07 |
List of references:
RECON syndrome is a genome instability disorder caused by mutations in the DNA helicase RECQL1.
Bassam Abu-Libdeh, Satpal S Jhujh, Srijita Dhar, Joshua A Sommers, Arindam Datta, Gabriel Mc Longo, Laura J Grange, John J Reynolds, Sophie L Cooke, Gavin S McNee, Robert Hollingworth, Beth L Woodward, Anil N Ganesh, Stephen J Smerdon, Claudia M Nicolae, Karina Durlacher-Betzer, Vered Molho-Pessach, Abdulsalam Abu-Libdeh, Vardiella Meiner, George-Lucian Moldovan, Vassilis Roukos, Tamar Harel, Robert M Brosh, Grant S Stewart,
The Journal of clinical investigation - Mar 2022