Global Variome shared LOVD

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Phenotype #0000325801 Individual ID 00435616 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite MRD75 Phenotype details developmental delay; mild intellectual disability; no microcephaly; MRI brain normal; neuropsychiatric disorders; seizures; drug-resistant epilepsy; no axial hypotoni; no appendicular hypertonia; normal reflexes; no ataxia; dysmorphic features; no heart disease; no short statur; no failure to thrive; no recurrent infections Inheritance Isolated (sporadic) Age/Examination 11y (11 years) 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 2023-08-06 10:54:39 +02:00 (CEST) Date last edited 2025-12-18 16:10:53 +01:00 (CET)

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