Global Variome shared LOVD

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Phenotype #0000343464 Individual ID 00454857 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite RENU Phenotype details see paper; ..., no intra-uterine growth retardation; no short stature; microcephaly, congenital; severe global developmental delay; 4y-walk (right talipes requiring bar); speech few words (4y-single words); intellectual disability; no behavioral issues; self stimulatory behaviours,; hypotonia; no seizures; MRI brain normal 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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