Global Variome shared LOVD

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Phenotype #0000326682 Individual ID 00436504 Associated disease COXPD Phenotype details see paper; ..., lethargy, hypotonia; no respiratory failure; no cerebral infraction; no seizures; no cardiac failure; no hypertrophic cardiomyopathy; no adrenal insufficiency; no hemorrhagic pancreatitis; no renal failure; no disseminated intravascular coagulation; no hypoglycemia; elevated serum lactate; elevated serum aspartate aminotransferase; normal serum amylase; elevated serum creatine kinase; elevated plasma Glycine; elevated urine organic acids (lactate, ethylmalonic, ketones, 3-methyllgutaconic) Diagnosis/Initial mitochondrial disorder Inheritance Familial, autosomal recessive Diagnosis/Definite COXPD52 Age/Examination 6y (6 years) Age/Onset 1m 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 16:31:36 +02:00 (CEST) Date last edited N/A

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