All individuals with variants in gene IFT74

5 entries on 1 page. Showing entries 1 - 5.
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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     
00269286 - - - F no Netherlands - 11y - - - obesity postaxial polydactyly, retinal dystrophy, and childhood obesity, no renal problems and developmental delay or intellectual disability. 2 1 Elles Boon
00358814 AR634-03 PubMed: Lindstrand 2016 - F no United States - - - - - BBS see paper; ... 1 1 LOVD
00358815 AR672-04 PubMed: Lindstrand 2016 - M no United States - - - - - BBS see paper; ... 2 1 LOVD
00388458 R09-612A PubMed: Zhang-2019 Unsolved case: biallelic causative mutations not identify - - - Latino - - - - ? polydactyly 1 1 LOVD
00388469 R95-149 PubMed: Zhang-2019 Unsolved case: biallelic causative mutations not identify - - - white - - - - ? - 1 1 LOVD
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