Global Variome shared LOVD

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Phenotype #0000343482 Individual ID 00454875 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; 2y-walk; no speech; intellectual disability; behavioral issues; Non verbal, in constant motion; hypotonia; seizures; MRI brain abnormal, abnormally thin corpus callosum with prominence of lateral ventricles felt to be secondary to decreased periventricular white matter volume, mild delay in myelination Inheritance Isolated (sporadic) Age/Examination 11y (11 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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