Global Variome shared LOVD

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Phenotype #0000326679 Individual ID 00436501 Associated disease COXPD Phenotype details see paper; ..., no facial dysmorphology; no limb dysmorphology; lethargy, anorexia, hypotonia; no respiratory failure; no cardiac failure; no hemorrhagic pancreatitis; no cerebral infarction; no renal failure; no mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS); no hypoglycemia; increased lactate; increased aspartate aminotransferase; increased creatine kinase; increased plasma amino acid concentration (small increase Alanine; urine organic acids; amino aciduria; metabolic acidosis Diagnosis/Initial infantile mitochondrial complex II/III deficiency Inheritance Familial, autosomal recessive Diagnosis/Definite COXPD52 Age/Examination 12y (12 years) Age/Onset - 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 16:04:21 +02:00 (CEST) Date last edited N/A

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