Global Variome shared LOVD

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Phenotype #0000350769 Individual ID 00465234 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite NEDRSO Phenotype details see paper; ..., birth spontaneous vaginal delivery, weight 3,190 g (46th centile), length 51 cm (84th centile); abnormal body weight (1st centile); short stature (<1st centile); 7y-microcephaly (OFC -4.12 SD, <1st centile); developmental/motor regression (onset 6m); spasticity; no spastic quadriparesis; dystonia; drooling, dysarthria; non-ambulatory; increased deep tendon reflexes; MRI brain severe atrophy of cerebellum, striatum, cerebrum 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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