Disease #04011

Official abbreviation -
Name Asparagine synthetase deficiency
OMIM ID 615574
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 2
Phenotype entries for this disease 2
Associated with 1 gene ASNS
Associated tissues -
Disease features -
Remarks -


Individuals

2 entries on 1 page. Showing entries 1 - 2.
Legend  

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Genes screened

Variants in genes

Variants     

Panel size     

Owner     
00080867 - Trujillano et al., submitted unaffected parents - - - - - 0 - - Asparagine synthetase deficiency Asparagine synthetase deficiency (OMIM:615574) ASNS ASNS 1 1 Daniel Trujillano
00080975 - Trujillano et al., submitted no information from parents - - - - - 0 - - Asparagine synthetase deficiency Asparagine synthetase deficiency (OMIM:615574) ASNS ASNS 1 1 Daniel Trujillano
Legend