Global Variome shared LOVD

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Phenotype #0000303254 Individual ID 00411174 Associated disease ISOD Phenotype details see paper; ..., developmental delay, hypotonia; 5m-two seizures; 21m-regression Diagnosis/Initial sulfite oxidase deficiency Inheritance Familial, autosomal recessive Diagnosis/Definite ISOD Age/Examination 05y (5 years) 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 2022-06-06 16:49:09 +02:00 (CEST) Date last edited N/A

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