Global Variome shared LOVD

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Phenotype #0000053228 Individual ID 00073553 Associated disease COXPD1 Phenotype details see paper; Sib1 dysmorphic, IUGR, microcephaly, neonatal liver failure, lactic acidosis, coagulopathy, died at 9d of respiratory failure Sib2 died 45 min after birth Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - 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 2016-06-11 12:09:15 +02:00 (CEST) Date last edited N/A

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