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

GeneName: DICER1 syndrome (pleuropulmonary blastoma familial tumor susceptibility syndrome), PMID (PubMed ID): 29762508, HGNCID: 17098, Inheritance pattern: autosomal-dominant disease, Disease entity: Plueropulomary Blastoma, Mutation: Somatic, Zygosity: heterozygous, Variant: multiple variants, Family information: NA, Case: young children, CasePresentingHPO: N/A, CasePreviousTesting: N/A, Gnomade #: N/A , Mutation type: deletion