Baller-Gerold Syndrome

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Prevalence (%) of clinical parameters based on data from 1 references describing 10 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
Thumb abnormalities skeletal 89 % 24635570 2015-09-18
Craniosynostosis skeletal 80 % 24635570 2015-09-18
Radial hypoplasia skeletal 78 % 24635570 2015-09-18
Short stature skeletal 50 % 24635570 2015-09-18
Mental retardation nervous 43 % 24635570 2015-09-18
Patellar hypoplasia skeletal 33 % 24635570 2015-09-18

List of references:

Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes.
J Piard, B Aral, P Vabres, M Holder-Espinasse, A Mégarbané, S Gauthier, V Capra, G Pierquin, P Callier, C Baumann, L Pasquier, G Baujat, L Martorell, A Rodriguez, A F Brady, F Boralevi, M A González-Enseñat, M Rio, C Bodemer, N Philip, M-P Cordier, A Goldenberg, B Demeer, M Wright, E Blair, E Puzenat, P Parent, Y Sznajer, C Francannet, N DiDonato, O Boute, V Barlogis, O Moldovan, D Bessis, C Coubes, M Tardieu, V Cormier-Daire, A B Sousa, J Franques, A Toutain, M Tajir, S C Elalaoui, D Geneviève, J Thevenon, J-B Courcet, J-B Rivière, C Collet, N Gigot, L Faivre, C Thauvin-Robinet,

Clinical genetics - Mar 2015