Global Variome shared LOVD

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Phenotype #0000350766 Individual ID 00465231 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite NEDRSO Phenotype details see paper; ..., birth spontaneous vaginal delivery, weight 3,288 g (45th centile); normal weight; short stature (2nd centile); 13y-microcephaly (OFC -2.12 SD, 2nd centile); developmental/motor regression (onset 30m); spasticity (progressive, ascending); spastic quadriparesis; dystonia; drooling, dysarthria; gait abnormalities; increased deep tendon reflexes Inheritance Familial, autosomal recessive Age/Examination - 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 2025-04-24 13:56:53 +02:00 (CEST) Date last edited N/A

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