All individuals with variants in gene MTR

11 entries on 1 page. Showing entries 1 - 11.
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     
00050656 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - 0 Decipher - ? abnormality of the hypothalamus-pituitary axis, intellectual disability moderate, generalized seizures, frontal upsweep of hair, abnormality of the eyebrow, low hanging columella, broad distal phalanx of finger, prominent fingertip pads, generalized hirsutism, prominent nipples, small hallux 1 1 Johan den Dunnen
00289766 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 21 Mohammed Faruq
00289767 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 12 Mohammed Faruq
00289768 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 10 Mohammed Faruq
00289769 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00289770 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 50 Mohammed Faruq
00289771 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 31 Mohammed Faruq
00304188 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00304189 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00334275 928 PubMed: Stone 2017 1 affected M - (United States) - - 0 - - retinal disease clinical category IIH3 1 1 LOVD
00361491 11DG0893 PubMed: Anazi 2017 familial F yes Saudi Arabia - - 0 - - ID not syndromic; intellectual disability and seizures 1 1 Johan den Dunnen
Legend   How to query