All individuals with variants in gene CEP83

8 entries on 1 page. Showing entries 1 - 8.
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     
00017033 - PubMed: Failler 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents F no France European - - - - ID, NPHP1 severe renal involvement progressing to ESRD <5y; mild intellectual disability, strabismus, hepatic cytolysis, cholestasis 2 1 Marianne Vos (LOVD-team)
00017034 - PubMed: Failler 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents M no France European - - - - ID, NPHP1 severe renal involvement progressing to ESRD <5y; speech delay, hydrocephalus; age ESDR 4,5y 2 1 Marianne Vos (LOVD-team)
00017035 - PubMed: Failler 2014 2-generation family, 1 affected, unaffected parents F no - European - - - - ID, NPHP1 - 1 1 Marianne Vos (LOVD-team)
00017036 - PubMed: Failler 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents M no France European - - - - ID, NPHP1 neurological alterations, including speech delay, intellectual disability, and/or hydrocephalus supported by cerebral MRI in combination with ophthalmologic defects, strabismus and retinal degeneration, intellectual disability, retinitis, age ESRD 4y 3 1 Marianne Vos (LOVD-team)
00017037 - PubMed: Failler 2014 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents, brothers II1/II2 M no France;Poland European - - - - ID, NPHP1 severe renal involvement progressing to ESRD <5y (II1); high blood pressure 2 2 Marianne Vos (LOVD-team)
00017038 - PubMed: Failler 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes (Turkey) Turkish - - - - ID, NPHP1 prominent microcystic tubular dilatations associated with tubular atrophy and interstitial fibrosis, atrophic tubules with thickening of the basement membranes, massive interstitial fibrosis, high blood pressure, hepatic fibrosis 1 1 Marianne Vos (LOVD-team)
00017039 - PubMed: Failler 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents F no - latino - - - - HYDRO, ID, NPHP1 prominent microcystic tubular dilatations associated with tubular atrophy, interstitial fibrosis, neurological alterations, including speech delay, intellectual disability, hydrocephalus supported by cerebral MRI in combination with ophthalmologic defects, strabismus, severe phenotype with ESRD at 1y, hydrocephalus, facial dysmorphism, heart anomaly complicated by triple X syndrome (47, XXX) 1 1 Marianne Vos (LOVD-team)
00335192 9272 PubMed: Haer-Wigman 2017 family - yes Netherlands - - - - - ? 56y-diagnosis visual impairment 2 1 LOVD
Legend   How to query  

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.