Global Variome shared LOVD

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Phenotype #0000351339 Individual ID 00465939 Associated disease NDD Diagnosis/Initial neurodegenerative delay Diagnosis/Definite DEDISB Phenotype details see paper; ..., motor delay; speech delay; severe delay; no behavioral problems; Intellectual functions at lower limit; Impaired fine motor skills, slight balance disorder, left laryngeal paralysis; limitation abductionleft eye with strabismus; no neurosensory disorders; MRI occipital meningocele, disrupted superior cerebellar vermis, bilateral asymmetrical nodular heterotopias; no dysmorphic features; no epilepsy Inheritance Isolated (sporadic) Age/Examination 14y (14 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 2025-06-20 11:45:26 +02:00 (CEST) Date last edited N/A

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