All individuals with variants in gene CBL

12 entries on 1 page. Showing entries 1 - 12.
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AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Variants     

Panel size     

Owner     
00050654 - PubMed: DDDS 2015, Journal: DDDS 2015 affected, unknown family members M - United Kingdom (Great Britain) - - 0 Decipher - ? disproportionate short-limb short stature, polyhydramnios, blue irides, downslanted palpebral fissures, micrognathia, pectus carinatum, hepatomegaly, splenomegaly, hypertrichosis, secundum atrial septal defect, abnormality of lipid metabolism, wide intermamillary distance, lack of subcutaneous fatty tissue, global developmental delay, intellectual disability mild, abnormality of the hand 1 1 Johan den Dunnen
00080995 - PubMed: Trujillano 2017 unaffected non-carrier parents - - - - - 0 - - NSLL Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (OMIM:613563) 1 1 Daniel Trujillano
00206470 - - - M - - - - 0 - - NSLL - 1 1 LOVD
00206471 - - - F - - - - 0 - - NSLL - 1 1 LOVD
00206472 - - - F - - - - 0 - - NSLL - 1 1 LOVD
00206473 - - - F - - - - 0 - - NSLL - 1 1 LOVD
00290264 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 19 Mohammed Faruq
00290265 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 3 Mohammed Faruq
00290266 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 252 Mohammed Faruq
00304289 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 11 Mohammed Faruq
00320303 BXC1 PubMed: Isbister 2020 - - - Australia - - 0 - - CM survived sudden cardiac arrest 1 1 Johan den Dunnen
00380808 ? PubMed: Nair 2018 - ? - Lebanon - - 0 - - NSLL DD; vertebral malformations; tracheoesophageal fistula (Multiple systems) 1 1 LOVD
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