RECON syndrome

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Prevalence (%) of clinical parameters based on data from 1 references describing 3 individuals







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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%)
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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 - 03 2022