All individuals with variants in gene C12orf57

12 entries on 1 page. Showing entries 1 - 12.
Legend   How to query  

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Variants     

Panel size     

Owner     
00080825 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - TEMTYS Temtamy syndrome (OMIM:218340) 1 1 Daniel Trujillano
00080849 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - TEMTYS Temtamy syndrome (OMIM:218340) 1 1 Daniel Trujillano
00080876 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - TEMTYS Temtamy syndrome (OMIM:218340) 1 1 Daniel Trujillano
00080881 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - TEMTYS Temtamy syndrome (OMIM:218340) 1 1 Daniel Trujillano
00080948 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - TEMTYS Temtamy syndrome (OMIM:218340) 1 1 Daniel Trujillano
00332080 F8‐M PubMed: Patel 2017 patient - - Saudi Arabia - - - - - MCOP - 1 1 LOVD
00332081 F9‐M PubMed: Patel 2017 family - yes Saudi Arabia - - - - - MCOP - 1 1 LOVD
00332082 F10‐M PubMed: Patel 2017 patient - - Saudi Arabia - - - - - MCOP - 1 1 LOVD
00332083 F11‐M PubMed: Patel 2017 family - yes Saudi Arabia - - - - - MCOP - 1 1 LOVD
00332084 F12‐M PubMed: Patel 2017 family - yes Saudi Arabia - - - - - MCOP - 2 1 LOVD
00361533 10DG0821 PubMed: Anazi 2017 familial F yes Saudi Arabia - - - - - ID syndromic; global developmental delay, seizures, coloboma 1 1 Johan den Dunnen
00374226 S-2832 PubMed: Ganapathy 2019 - - - India - - - - - ? Global developmental delay, seizures, upslanting of eyes, bilateral partial ptosis, hypertelorism, hyperactivity and autistic traits. 1 1 Johan den Dunnen
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.