Global Variome shared LOVD

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Phenotype #0000343445 Individual ID 00454835 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite HGPPS2 Phenotype details see paper; ..., unsteady gate, pyramidal signs, oculomotor apraxia, speech delay; MRI brain agenesis corpus callosum, thin pons with posterior midline cleft Inheritance Familial, autosomal recessive Age/Examination 3y (3 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2024-09-28 10:13:26 +02:00 (CEST) Date last edited N/A

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