Global Variome shared LOVD

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Phenotype #0000051371 Individual ID 00064674 Associated disease COXPD1 Phenotype details encephalopathy, hepatomegaly, developmental delay, microcephaly, lactic acidosis, abn. carbohydrate deficient transferrin Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Mariella Simon Database submission license No license selected Created by Mariella Simon Date created 2016-05-24 22:21:21 +02:00 (CEST) Date last edited 2016-05-26 16:40:13 +02:00 (CEST)

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