All individuals with variants in gene SLC5A2

6 entries on 1 page. Showing entries 1 - 6.
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AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Variants     

Panel size     

Owner     
00017045 - - - F no China - - 0 - - GLYS-1 - 1 1 Lei Yu
00017578 - - - M no China - - 0 - - GLYS-1 - 2 1 Lei Yu
00017580 - - - M no China - - 0 - - GLYS-1 - 1 1 Lei Yu
00017581 - - - M ? China - - 0 - - GLYS-1 - 1 1 Lei Yu
00017582 - - - M no China - - 0 - - GLYS-1 - 1 1 Lei Yu
00050683 - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected sibling(s) M - United Kingdom (Great Britain) - - 0 Decipher - ? microcephaly, abnormality of the outer ear, prominent metopic ridge, narrow mouth, inferior vermis hypoplasia, delayed speech and language development 1 2 Johan den Dunnen
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