Global Variome shared LOVD

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Phenotype #0000305410 Individual ID 00413436 Associated disease ? Diagnosis/Initial global developmental delay Diagnosis/Definite - Phenotype details see paper; ..., global developmental delay with regression, seizures, microcephaly Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2022-07-18 13:53:19 +02:00 (CEST) Date last edited N/A

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