Global Variome shared LOVD

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Phenotype #0000343496 Individual ID 00454889 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite RENU Phenotype details see paper; ..., no intra-uterine growth retardation; short stature; microcephaly, congenital; severe global developmental delay; 5y-walk, ataxic gait; no speech (babbles only); intellectual disability; no behavioral issues; hypotonia; seizures; MRI brain abnormal, slight reduction in white matter bulk and mildly enlarged ventricles but no structural abnormality Inheritance Isolated (sporadic) Age/Examination 12y (12 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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