1 Matching Annotations
- Jul 2024
-
drive.google.com drive.google.com
-
Case: Korean, Male
DiseaseAssertion: OTCD
FamilyInfo: n/a
CasePresentingHPOs: HP:0003623, HP:0001987, HP:0003218 (Neonatal onset, Hyperammonemia, Oroticaciduria)
CaseHPOFreeText: Elevated plasma ammonia concentration of 856 umol/L (Normal range 10-35 umol/L), Normal plasma citrulline concentration of 18.9 umol/L (Normal range 10-45 umol/L), Elevated urinary orotate of 3677.4 mmol/mmol creatinine (Normal range 0.3-6 mmol/mmol creatinine)
CasePreviousTesting: OTC Mutation Analysis, In Vitro Expression Study
Variant: c.853del (p.(Gln285ArgfsTer4))
ClinVarID: n/a
CAID: n/a
gnomAD: n/a
-