Global Variome shared LOVD

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Phenotype #0000351972 Individual ID 00466608 Associated disease ? Diagnosis/Initial developmental delay Diagnosis/Definite - Phenotype details see paper; ..., motor developmental delay, muscular hypotonia, ataxia, eye movement disorder Inheritance Isolated (sporadic) 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 2025-09-17 19:08:06 +02:00 (CEST) Date last edited N/A

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