Global Variome shared LOVD

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Phenotype #0000326319 Individual ID 00436135 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details onset infancy; neurodevelopmental delay; no obesity; no hyperphagia; no diabetes; leuko-encephalopathy; CAKUT (ureter duplex, dysplastic kidneys); no neonatal hypotonia; no feeding difficulties infancy; mild speech delay; no motor delay; no learning disabilities; elementary school; no intellectual disability; no epilepsy Inheritance Familial Age/Examination 8y (8 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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