All individuals with variants in gene DCAF17

20 entries on 1 page. Showing entries 1 - 20.
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     
00108616 - - - - yes Pakistan - - - - - HYPTSV - 1 1 Irfan Ullah
00324498 Fam1 PubMed: Alazami 2008 5-generation family, 6 affected (4F, 2M), unaffected heterozygous carrier parents/relatives F;M yes Saudi Arabia - - - - - ? see paper; ..., hypogonadism, alopecia, diabetes mellitus, mental retardation, extrapyramidal syndrome 1 6 Johan den Dunnen
00324499 Fam2 PubMed: Alazami 2008 family - - Saudi Arabia - - - - - ? see paper; ..., hypogonadism, alopecia, diabetes mellitus, mental retardation, extrapyramidal syndrome 1 1 Johan den Dunnen
00324500 Fam3 PubMed: Alazami 2008 family - - Saudi Arabia - - - - - ? see paper; ..., hypogonadism, alopecia, diabetes mellitus, mental retardation, extrapyramidal syndrome 1 1 Johan den Dunnen
00324501 Fam4 PubMed: Alazami 2008 family - - Saudi Arabia - - - - - ? see paper; ..., hypogonadism, alopecia, diabetes mellitus, mental retardation, extrapyramidal syndrome 1 1 Johan den Dunnen
00324502 Fam5 PubMed: Alazami 2008 family - - Saudi Arabia - - - - - ? see paper; ..., hypogonadism, alopecia, diabetes mellitus, mental retardation, extrapyramidal syndrome 1 1 Johan den Dunnen
00324503 Fam6 PubMed: Alazami 2008 family - - Saudi Arabia - - - - - ? see paper; ..., hypogonadism, alopecia, diabetes mellitus, mental retardation, extrapyramidal syndrome 1 1 Johan den Dunnen
00324504 Fam7 PubMed: Alazami 2008 family - - Saudi Arabia - - - - - ? see paper; ..., hypogonadism, alopecia, diabetes mellitus, mental retardation, extrapyramidal syndrome 1 1 Johan den Dunnen
00324505 patient PubMed: Medica 2007, PubMed: Alazami 2008 isolated case - - Slovenia Eastern Europe - - - - ? see paper; ..., hypogonadism, alopecia, diabetes mellitus, mental retardation, extrapyramidal syndrome 1 1 Johan den Dunnen
00324506 family PubMed: Koshy 2008, PubMed: Alazami 2008 family, 3 affected, unaffected parents - - India - - - - - ? see paper; ..., hypogonadism, alopecia, diabetes mellitus, mental retardation, extrapyramidal syndrome 1 1 Johan den Dunnen
00324507 family PubMed: Schneider 2008, PubMed: Alazami 2008 family, 2 affected, unaffected parents - - - Middle East - - - - ? see paper; ..., hypogonadism, alopecia, diabetes mellitus, mental retardation, extrapyramidal syndrome 1 1 Johan den Dunnen
00324508 FamIPat1 PubMed: Alazami 2010 - M yes Turkey - - - - - ? alopecia; hypogonadism; no deafness; cognitive impairment; dystonia; no diabetes; hypothyroidism, low IGF1, subtle white matter changes 1 1 Johan den Dunnen
00324509 FamIIPat1 PubMed: Alazami 2010 - F - Canada Italy - - - - ? alopecia; hypogonadism; deafness; cognitive impairment; no dystonia; diabetes; peripheral neuropathy (?diabetes-related) 1 1 Johan den Dunnen
00324510 FamIIIPat1 PubMed: Alazami 2010 family, 3 affected, unaffected parents M yes France gypsy - - - - ? alopecia; hypogonadism; deafness; cognitive impairment; no dystonia; no diabetes 1 3 Johan den Dunnen
00324511 FamIIIPat2 PubMed: Alazami 2010 sister F yes France gypsy - - - - ? alopecia; hypogonadism; no deafness; no cognitive impairment; no dystonia; no diabetes 1 1 Johan den Dunnen
00324512 FamIIIPat3 PubMed: Alazami 2010 sister F yes France gypsy - - - - ? alopecia; hypogonadism; no deafness; no cognitive impairment; no dystonia; no diabetes 1 1 Johan den Dunnen
00324513 FamIVPat1 PubMed: Alazami 2010 family, affected brother/sister M - Italy - - - - - ? alopecia; hypogonadism; deafness; cognitive impairment; dystonia; diabetes 1 2 Johan den Dunnen
00324514 FamIVPat2 PubMed: Alazami 2010 sister F - Italy - - - - - ? alopecia; hypogonadism; deafness; cognitive impairment; dystonia; diabetes 1 1 Johan den Dunnen
00361610 12DG1396 PubMed: Anazi 2017 familial F yes Saudi Arabia - - - - - ID syndromic; intellectual disability, hypogonadism, alopecia, diabetes 1 1 Johan den Dunnen
00471289 IS-DYS-411 PubMed: Zech 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents - - - - - - - - DYT isolated dystonia, coexisting non-movement disorder-related neurological symptoms; onset childhood (3-12y); generalized dystonia; no dystonic cerebral palsy 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.
  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.