Global Variome shared LOVD

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Phenotype #0000351343 Individual ID 00465943 Associated disease NDD Diagnosis/Initial neurodegenerative delay Diagnosis/Definite DEDISB Phenotype details see paper; ..., motor delay; speech delay; severe delay; behavioral problems; temper tantrums, anger bursts, severe psychomotor agitation, distractibility, attention disorders, enuresis, encopresis; moderate intellectual disability; Impaired fine and gross motor skills, balance disorders, dysarthria; no neurosensory disorders; MRI pineal cyst, low-set cerebellar tonsils; hypotonic long face, wide mouth, large ears, bulbous nose tip; generalized tonic–clonic seizures, febrile seizures, myoclonic, atonic Inheritance Familial, autosomal dominant Age/Examination 9y (9 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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