Global Variome shared LOVD

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Phenotype #0000347492 Individual ID 00459416 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details see paper; ..., 1d-deceased; birth 37w, elective C-section, weight 2.5kg, OFC 32cm (-1 SD); MRI brain agenesis corpus callosum, microcephaly, pontocerebellar hypoplasia, dilated ventricular system, simplified gyral pattern; hyperreflexia; seizures 20-gw intrauterine, 1d myoclonic convulsions immediately after birth; no obvious facial dysmorphism Inheritance Familial, autosomal recessive Age/Examination 1d 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 2024-12-27 14:26:09 +01:00 (CET) Date last edited N/A

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