Global Variome shared LOVD

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Phenotype #0000231772 Individual ID 00305924 Associated disease NDD Diagnosis/Initial - Diagnosis/Definite - Phenotype details see paper; ..., facial dysmorphism; axial hypotonia; not sitting; never walked; speech delay; first months regression onset; no dystonia; ataxia; quadriplegic hypotonic–ataxic tetraparesis, intermittent nystagmus; 2.5m-tonic-clonic seizures; EEG multifocal cerebral hyperexcitability with intermittent delta waves and sharp slow waves, hypsarrhythmia; atrophy; no periventricular anomalies Inheritance Isolated (sporadic) Age/Examination 10y5m (10 years, 5 months) 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 2020-07-05 16:30:04 +02:00 (CEST) Date last edited 2020-07-05 17:04:51 +02:00 (CEST)

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