All individuals with variants in gene CRADD

30 entries on 1 page. Showing entries 1 - 30.
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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     
00207614 FIN-1_IX-1 - - F yes Finland - - 0 - - MRT34 - 1 2 Daniel Lôpo Polla
00207617 FIN-1_IX-2 - - F yes Finland - - 0 - - MRT34 - 1 1 Daniel Lôpo Polla
00207623 FIN-2_IX-4 - - F no Finland - - - - - MRT34 - 1 2 Daniel Lôpo Polla
00207624 FIN-2_ IX-6 - - F no Finland - - - - - MRT34 - 1 1 Daniel Lôpo Polla
00207625 FIN-3_ V-5 - - M yes Finland - - - - - MRT34 - 1 3 Daniel Lôpo Polla
00207626 FIN-3_ V-6 - - F yes Finland - - - - - MRT34 - 1 1 Daniel Lôpo Polla
00207627 FIN-3_ V-8 - - M yes Finland - - - - - MRT34 - 1 1 Daniel Lôpo Polla
00207630 FIN-4_ IX-8 - - M no Finland - - - - - MRT34 - 1 1 Daniel Lôpo Polla
00207631 FIN-5_ IX-4 - - M no Finland - - - - - MRT34 - 1 1 Daniel Lôpo Polla
00207632 FIN-6_ IX-10 - - M no Finland - - - - - MRT34 - 1 1 Daniel Lôpo Polla
00207633 FIN-7_ II-1 - - F no Finland - - - - - MRT34 - 1 1 Daniel Lôpo Polla
00207634 FIN-8_ III-1 - - F yes Finland - - - - - MRT34 - 1 1 Daniel Lôpo Polla
00207635 FIN-9_ III-4 - - F no Finland - - - - - MRT34 - 1 1 Daniel Lôpo Polla
00207636 FIN-10_ IX-6 - - F no Finland - - - - - MRT34 - 1 1 Daniel Lôpo Polla
00207638 FIN-11_ III-1 - - F no Finland - - - - - MRT34 - 1 2 Daniel Lôpo Polla
00207639 FIN-11_ III-3 - - F no Finland - - - - - MRT34 - 1 1 Daniel Lôpo Polla
00207640 FIN-12_VII-1 - - M no Finland - - - - - MRT34 - 1 1 Daniel Lôpo Polla
00207641 FIN-13_ VIII-2 - - M no Finland - - - - - MRT34 - 1 2 Daniel Lôpo Polla
00207642 FIN-13_ VIII-3 - - M no Finland - - - - - MRT34 - 1 1 Daniel Lôpo Polla
00207643 FIN-14_VIII-9 - - F no Finland - - - - - MRT34 - 1 1 Daniel Lôpo Polla
00207644 FIN-15_ II-2 PubMed: Avela 2012 family, 2 affected brothers M no Finland - - 0 - - MRT34 - 1 2 Daniel Lôpo Polla
00207646 FIN-15_ II-3 PubMed: Avela 2012 - M no Finland - - 0 - - MRT34 - 1 1 Daniel Lôpo Polla
00275662 FamMR123Pat3 PubMed: Santos-Cortez 2018 4-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives M yes Pakistan - - 0 - - ID OFC 50cm; IQ 55, mild intellectual disability (HP:0001256) 1 3 Johan den Dunnen
00275663 FamMR123Pat5 PubMed: Santos-Cortez 2018 - M yes Pakistan - - 0 - - ID OFC 54cm; IQ 55, mild intellectual disability (HP:0001256) 1 1 Johan den Dunnen
00374605 S-3540 PubMed: Ganapathy 2019 - - - India - - 0 - - ? - 1 1 Johan den Dunnen
00408976 5 PubMed: Puffenberger 2012 no patient number in publication, consecutive numbers given ? - - Old Order Amish and Mennonite - 0 - - MR;ID delayed language development; mild-moderate mental retardation 1 1 LOVD
00408977 6 PubMed: Puffenberger 2012 no patient number in publication, consecutive numbers given ? - - Old Order Amish and Mennonite - 0 - - MR;ID delayed language development; mild-moderate mental retardation 1 1 LOVD
00408978 7 PubMed: Puffenberger 2012 no patient number in publication, consecutive numbers given ? - - Old Order Amish and Mennonite - 0 - - MR;ID delayed language development; mild-moderate mental retardation 1 1 LOVD
00408979 8 PubMed: Puffenberger 2012 no patient number in publication, consecutive numbers given ? - - Old Order Amish and Mennonite - 0 - - MR;ID delayed language development; mild-moderate mental retardation 1 1 LOVD
00408980 9 PubMed: Puffenberger 2012 no patient number in publication, consecutive numbers given ? - - Old Order Amish and Mennonite - 0 - - MR;ID delayed language development; mild-moderate mental retardation 1 1 LOVD
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