Global Variome shared LOVD

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Phenotype #0000307976 Individual ID 00416211 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite - Phenotype details see paper; ..., normal birth; language impairment/delay; autism spectrum disorder; mild intellectual disability; no attention deficit hyperactivity disorder; developmental delay; anxiety, episodes of aggressivity; MRI brain mild thinner corpus callosum, small supernumerary cavum veli interpositum, increased T2 and FLAIR signals in lateral periventricular spaces, related with existence of perivascular areas and terminal myelination zones; seizures; EEG anomalies; no hand/feet malformations; no skeletal malformations; no breathing problems; no ocular anomalies; no hearing problems; cafe-au-lait spot Inheritance Isolated (sporadic) Age/Examination 3y (3 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Lisa Pavinato Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2022-08-24 12:29:18 +02:00 (CEST) Date last edited N/A

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