Global Variome shared LOVD

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Phenotype #0000355480 Individual ID 00470331 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite CONDCAC Phenotype details see paper; ..., 8y-insidious motor clumsiness; 10y-gait instability, recurrent falls; cognitive decline, learning difficulties, language difficulties, IQ65; 11y-mild generalized ataxia, bradykinesia, osteotendinous hyporeflexia, mild muscle atrophy; spontaneous and evoked arrhythmic muscle jerks upper limbs, EEG bilateral spike–wave; MRI brain progressive frontal lobe, cerebellar atrophy Inheritance Unknown Age/Examination 13y (13 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 2025-12-01 12:16:11 +01:00 (CET) Date last edited N/A

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