Global Variome shared LOVD

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Phenotype #0000326681 Individual ID 00436503 Associated disease COXPD Phenotype details see paper; ..., 7m-deceased; lethargy, hypotonia; respiratory failure; no seizures; cardiac failure; no hypertrophic cardiomyopathy; no adrenal insufficiency; no hemorrhagic pancreatitis; no renal failure; disseminated intravascular coagulation; hypoglycemia; elevated serum lactate; elevated serum aspartate aminotransferase; normal serum amylase; elevated serum creatine kinase; elevated plasma Alanine, Glycine; elevated urine organic acids (ethylmalonic, krebs cycle metabolites); amino aciduria Diagnosis/Initial mitochondrial disorder Inheritance Familial, autosomal recessive Diagnosis/Definite COXPD52 Age/Examination 00y07m (7 months) Age/Onset 00y07m Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2023-09-19 16:27:50 +02:00 (CEST) Date last edited 2023-09-19 16:31:14 +02:00 (CEST)

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