All individuals with variants in gene ASNS

4 entries on 1 page. Showing entries 1 - 4.
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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     
00080867 - PubMed: Trujillano 2017 unaffected parents - - - - - 0 - - ASNSD Asparagine synthetase deficiency (OMIM:615574) 1 1 Daniel Trujillano
00080975 - PubMed: Trujillano 2017 no information from parents - - - - - 0 - - ASNSD Asparagine synthetase deficiency (OMIM:615574) 1 1 Daniel Trujillano
00267036 - - - M - - - - 0 - - ASNSD Microcephaly HP:0000252 Cerebellar hypoplasia HP:0001321 1 2 Sandra Cooper
00361697 11DG1123 PubMed: Anazi 2017 familial M yes Saudi Arabia - - 0 - - ID syndromic; global developmental delay, microcephaly, hyperkeplexia 1 1 Johan den Dunnen
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