Global Variome shared LOVD

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Phenotype #0000307977 Individual ID 00416212 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite NEDLAAD Phenotype details see paper; ..., normal birth; language impairment/delay; no autism spectrum disorder; severe intellectual disability; attention deficit hyperactivity disorder; no developmental delay; aggressive behaviour; MRI brain hypoplastic corpus callosum rostrum; seizures; EEG anomalies; hand triphalangeal thumb, feet bilateral enlargement of I digit; scoliosis; no breathing problems; no ocular anomalies; no hearing problems Inheritance Isolated (sporadic) Age/Examination 10y (10 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 2025-12-01 11:51:20 +01:00 (CET)

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