Global Variome shared LOVD

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Phenotype #0000307967 Individual ID 00416202 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite CONDAC Phenotype details see paper; ..., normal birth; language impairment/delay; autism spectrum disorder; moderate intellectual disability; attention deficit hyperactivity disorder; developmental delay; MRI brain white matter gliosis; seizures; EEG anomalies; hands bilateral clinodactyly of the V digit, feet small sandal gap and mild bilateral V digit brachydactyly; no skeletal malformations; no breathing problems; no ocular anomalies; no hearing problems; feeding difficulties Inheritance Familial Age/Examination 12y (12 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 11:48:58 +01:00 (CET)

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