All individuals with variants in gene HARS2

8 entries on 1 page. Showing entries 1 - 8.
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     
00050575 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - 0 Decipher - ? intellectual disability, seizures 1 1 Johan den Dunnen
00087124 - PubMed: Lerat 2016, Journal: Lerat 2016 - - yes - Morocco - 0 - - PRLTS see paper;, ..., profound deafness, amenorrhea II (onset 25y), no neurological symptoms, hypothyroidism 1 1 Johan den Dunnen
00087125 - PubMed: Lerat 2016, Journal: Lerat 2016 - - yes - Morocco - 0 - - PRLTS see paper;, ..., profound deafness, amenorrhea II (onset 26y), no neurological symptoms, hypothyroidism 1 1 Johan den Dunnen
00282827 - - - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00282828 - - - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00282829 - PubMed: Pierce 2011, PubMed: Pallister 1979 - - - - - - 0 - - PRLTS - 1 1 Global Variome, with Curator vacancy
00282830 - - - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00282831 - PubMed: Pierce 2011 - - - - - - 0 - - PRLTS - 1 1 Global Variome, with Curator vacancy
Legend