Global Variome shared LOVD

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Phenotype #0000343492 Individual ID 00454885 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite RENU Phenotype details see paper; ..., no intra-uterine growth retardation; short stature; microcephaly; moderate global developmental delay; 18m-walk unsteady, 2y6m-walk confident; fluent speech, 30m-first words; intellectual disability, moderate; behavioral issues; Easily frustrated, prefers routine and repetitive play; no hypotonia; seizures; MRI brain abnormal, 18m-NAD, incomplete myelination and rather small volume white matter but most likely both within normal limits 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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