Global Variome shared LOVD

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Phenotype #0000326680 Individual ID 00436502 Associated disease COXPD Phenotype details see paper; ..., 43d-deceased; lethargy, hypotonia; respiratory failure; no seizures; cardiac failure; hypertrophic cardiomyopathy; 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 (lactate, 3-hydroxyisovaleric, ketones, 3-methyllgutaconic, 3-methyllgutaric acids); amino aciduria Diagnosis/Initial mitochondrial disorder Inheritance Familial, autosomal recessive Diagnosis/Definite COXPD52 Age/Examination 00y00m43d (43 days) Age/Onset 00y00m40d 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 16:20:36 +02:00 (CEST) Date last edited 2023-09-19 16:27:29 +02:00 (CEST)

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