Global Variome shared LOVD

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Phenotype #0000304385 Individual ID 00412380 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details last assessment early childhood; intellectual disability; developmental delay; speech not yet achieved; no seizures/epilepsy, tonic, atonic, atypical absence, myoclonic and focal, better seizure control after medication adjustment; hypotonia diagnosed at birth; optic neuropathy and cortical visual impairment; synophrys (unibrow), frontal bossing (prominent forehead) and arched palate; MRI brain global parenchymal volume loss with associated ex vacuo ventriculomegaly, MRI before seizure onset was normal; Multifocal high-voltage spike-and-slow-wave complexes bilaterally and independently, superimposed on a slow disorganized background; Inheritance Isolated (sporadic) Age/Examination 02y10m (2 years, 10 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 2022-06-27 21:44:40 +02:00 (CEST) Date last edited N/A

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