Global Variome shared LOVD

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Phenotype #0000358859 Individual ID 00474059 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite - Phenotype details see paper; .... 4m-deceased; premature birth; birth weight aware gestational age; microcephaly; severe developmental delay/intellectual disability; no seizures; MRI brain normal Inheritance Familial, autosomal recessive Age/Examination 4m 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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