Global Variome shared LOVD

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Phenotype #0000231775 Individual ID 00305927 Associated disease NDD Diagnosis/Initial - Diagnosis/Definite - Phenotype details see paper; ..., facial dysmorphism; axial hypotonia; 11m-sit; 17m-walk; speech delay; no regression; no dystonia; no ataxia; dysphagia; no seizure; no atrophy; no periventricular anomalies Inheritance Isolated (sporadic) Age/Examination 3y7m (3 years, 7 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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