Global Variome shared LOVD

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Phenotype #0000326322 Individual ID 00436138 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details onset infancy; neurodevelopmental delay; obesity; no hyperphagia; no diabetes; brain MRI normal; no uro-renal anomalies; no neonatal hypotonia; feeding difficulties infancy; moderate speech delay; severe motor delay; severe learning disabilities; no school (special education); moderate intellectual disability; epilepsy Inheritance Isolated (sporadic) Age/Examination 16y (16 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 2023-08-16 11:42:32 +02:00 (CEST) Date last edited N/A

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