Global Variome shared LOVD

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Phenotype #0000326605 Individual ID 00436426 Associated disease COXPD Phenotype details Intrauterine growth retardation, Lactic acidosis, Decreased circulating cortisol level, Recurrent hypoglycemia, Aplasia/Hypoplasia of the cerebellum, Abnormal septum pellucidum morphology, Cavum septum pellucidum, Thin corpus callosum, CNS hypomyelination Diagnosis/Initial combined oxidative phosphorylation deficiency Inheritance Unknown Diagnosis/Definite COXPD52 Age/Examination 00y01m (1 month) Age/Onset - Phenotype/Onset - Protein - Owner name Andreas Laner Database submission license Creative Commons Attribution 4.0 International Created by Andreas Laner Date created 2023-09-15 17:02:18 +02:00 (CEST) Date last edited 2023-09-18 12:26:39 +02:00 (CEST)

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