Global Variome shared LOVD

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Phenotype #0000257129 Individual ID 00361727 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite CDG2N Inheritance Familial, autosomal recessive Phenotype details see paper; ..., cranial asymmetry, severe infantile spasms with hypsarrhythmia, dysproportionate dwarfism 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 2021-04-08 11:48:33 +02:00 (CEST) Date last edited N/A

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