Global Variome shared LOVD

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Phenotype #0000352816 Individual ID 00467605 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite ALAZS Inheritance Familial, autosomal recessive Phenotype details see paper; ..., intellectual disability; developmental delay, dysmorphic features, failure to thrive, involuntary movements upper limbs, ataxia, inability to flex thumbs bilaterally. Age/Examination 02y (2 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 2025-10-23 10:46:06 +02:00 (CEST) Date last edited N/A

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