Phenotype #0000357669

Individual ID 00472873
Associated disease OTCD
Phenotype details see paper; ..., birth 29w-Caesarean section maternal HELLP syndrome; no intellectual disability; hyperammonaemia; normal physical examination, normal growth parameters, no chronic liver disease; affected brother 33y-deceased ( hyperammonemic encephalopathy)
Diagnosis/Initial late-onset ornithine carbamoyltransferase deficiency
Inheritance Familial, X-linked recessive
Diagnosis/Definite OTCD
Age/Examination 12y (12 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2026-03-02 15:41:27 +01:00 (CET)
Date last edited N/A

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