All individuals with variants in gene MTR

9 entries on 1 page. Showing entries 1 - 9.
Legend  

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 - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - ? - 1 21 Mohammed Faruq
00289767 - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - ? - 1 12 Mohammed Faruq
00289768 - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - ? - 1 10 Mohammed Faruq
00289769 - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00289770 - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - ? - 1 50 Mohammed Faruq
00289771 - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - ? - 1 31 Mohammed Faruq
00304188 - Faruq 2020, subitted analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00304189 - Faruq 2020, subitted analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
Legend