Global Variome shared LOVD

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Phenotype #0000343498 Individual ID 00454891 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite RENU Phenotype details see paper; ..., no intra-uterine growth retardation; no short stature; microcephaly (2nd centile); global developmental delay; no speech; intellectual disability; no behavioral issues; Likes to put things in her mouth, described as sociable at age 10 months; no seizures Inheritance Isolated (sporadic) 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 2024-09-30 10:26:47 +02:00 (CEST) Date last edited N/A

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