Global Variome shared LOVD

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Phenotype #0000343490 Individual ID 00454883 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite RENU Phenotype details see paper; ..., no intra-uterine growth retardation; short stature; no microcephaly; severe global developmental delay; 4y-walk; no speech; intellectual disability; behavioral issues; Biting, pulling, and banging head against wall. Agitated. As of 15/04/24, has obsessive mouthing (swallowing everything with ?absent gag reflex); hypotonia; seizures; MRI brain abnormal, reduced thickness of corpus callosum and mild ventriculomegaly, lLeft hippocampus sclerosis (small and bright) 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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