All individuals with variants in gene HCFC1

10 entries on 1 page. Showing entries 1 - 10.
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     
00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml) 2 1 Yu Sun
00000209 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml) 2 1 Yu Sun
00050498 - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected and affected2nd degree relatives M - United Kingdom (Great Britain) - - 0 Decipher - ? intellectual disability, specific learning disability, low posterior hairline, frontal upsweep of hair, clinodactyly of the 5th finger, second toe clinodactyly 1 1 Johan den Dunnen
00172606 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00172607 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00172608 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 29 Lucy Raymond
00172609 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00183104 25644381-FamD144 PubMed: Hu 2016 family, 4 affected, 2 unaffected heterozygous carrier females M - - - - 0 - - MRX;IDX - 1 4 Johan den Dunnen
00183137 25644381-FamAU29 PubMed: Hu 2016 family, 2 affected, 1 unaffected heterozygous carrier female M - - - - 0 - - MRX;IDX - 1 2 Johan den Dunnen
00296774 APN-113 PubMed: Redin 2014 analysis 106 patients; 2-generation family, 2 affected brothers, unaffected carrier mother M - France - - 0 - - ID severe intellectual disability, no dysmorphic traits, no urogenital abnormalities, no Heinz bodies 1 2 Johan den Dunnen
Legend   How to query