Global Variome shared LOVD

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Phenotype #0000229723 Individual ID 00302642 Associated disease MOCOD Diagnosis/Initial molybdenum cofactor deficiency Diagnosis/Definite MOCODB Phenotype details see paper; ..., healthy at birth; 3d-feeding difficulties, hypotonia, drug-resistant tonic seizures and clonic seizures, elevated sulfite and diminished uric acid in urine; 21d-died cardiorespiratory arrest Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-05-27 08:31:35 +02:00 (CEST) Date last edited 2020-05-27 08:48:22 +02:00 (CEST)

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