All individuals with variants in gene IFT122

16 entries on 1 page. Showing entries 1 - 16.
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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     
00058513 - - - M no Brazil - - - - - SACS, SRTD12 - 3 1 Karina Silveira
00095096 - - - - no - - - - - - CED Cranioectodermal dysplasia-1 (CED1) 2 1 Karen Stals
00245400 - - - M - ? (unknown) - - - - - CED1 - 1 1 LOVD
00245401 - - - M - ? (unknown) - - - - - CED1 - 1 1 LOVD
00245402 - - - M - ? (unknown) - - - - - CED1 - 1 1 LOVD
00245403 - - - M - ? (unknown) - - - - - CED1 - 1 1 LOVD
00245404 - - - F - ? (unknown) Polish - - - - CED1 - 1 1 LOVD
00245405 - - - F - ? (unknown) Polish - - - - CED1 - 1 1 LOVD
00245406 - - - M - ? (unknown) Polish - - - - CED1 - 1 1 LOVD
00245407 - - - M - ? (unknown) Polish - - - - CED1 - 1 1 LOVD
00293209 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 3 Mohammed Faruq
00293210 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 12 Mohammed Faruq
00293211 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 13 Mohammed Faruq
00331488 11DG0058 , 11DG0059 , 11DG0060 PubMed: Maddirevula 2018 family, 3 affected (F, 2M) F;M yes - Arab - - - - skeletal dysplasia Craniosynostosis, Abnormal facial shape, Hypodontia, Brachydactyly, Clinodactyly, Joint laNo 1 3 LOVD
00331489 14DG1212 PubMed: Maddirevula 2018 isolated case F yes - Arab - - - - skeletal dysplasia Feeding difficulties, Abnormality of eye movement, Failure to thrive, Hypertelorism, ShortNo 1 1 LOVD
00361619 11DG0058 PubMed: Anazi 2017 familial M yes Saudi Arabia - - - - - ID syndromic; intellectual disability, craniosynostosis 1 1 Johan den Dunnen
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