Global Variome shared LOVD

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Phenotype #0000358868 Individual ID 00474068 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite - Phenotype details see paper; ..., no premature birth; birth weight aware gestational age; microcephaly; global developmental delay; seizures; nystagmus; no musculoskeletal abnormalities; MRI brain features of leukodystrophy Inheritance Familial, autosomal recessive Age/Examination 3.7y 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 2026-03-10 13:44:25 +01:00 (CET) Date last edited N/A

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