Global Variome shared LOVD

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Phenotype #0000307968 Individual ID 00416203 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite NEDLAAD Phenotype details see paper; ..., normal birth; language impairment/delay; autism spectrum disorder; mild intellectual disability; attention deficit hyperactivity disorder; developmental delay; no seizures; EEG normal; hands foetal pads; stubby fingers, feet clinodactyl y of the IV and V digit bilaterally; no skeletal malformations; no breathing problems; no ocular anomalies; right ear mild hearing loss; mild right hearing loss, high pain threshold Inheritance Isolated (sporadic) Age/Examination 06y (6 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 11:50:21 +01:00 (CET)

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