Disease #04011 (ASNSD (asparagine synthetase deficiency (ASNSD)), OMIM:615574)

Official abbreviation ASNSD
Name asparagine synthetase deficiency (ASNSD)
OMIM ID 615574
Human Phenotype Ontology Project (HPO) HPO
Inheritance AR
Individuals reported having this disease 3
Phenotype entries for this disease 3
Associated with 1 gene ASNS
Associated tissues -
Disease features -
Remarks -


Individuals

3 entries on 1 page. Showing entries 1 - 3.
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00080867 - PubMed: Trujillano 2017 unaffected parents - - - - - 0 - - ASNSD Asparagine synthetase deficiency (OMIM:615574) ASNS ASNS 1 1 Daniel Trujillano
00080975 - PubMed: Trujillano 2017 no information from parents - - - - - 0 - - ASNSD Asparagine synthetase deficiency (OMIM:615574) ASNS ASNS 1 1 Daniel Trujillano
00267036 - - - M - - - - 0 - - ASNSD Microcephaly HP:0000252 Cerebellar hypoplasia HP:0001321 ASNS ASNS 1 2 Sandra Cooper
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