Global Variome shared LOVD

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Phenotype #0000358870 Individual ID 00474070 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite - Phenotype details see paper; .... 27m-deceased; no premature birth; intrauterine growth restriction; microcephaly; severe developmental delay/intellectual disability; seizures; optic atrophy; MRI brain diffuse atrophy Inheritance Familial, autosomal recessive Age/Examination 2y3m (2 years, 3 months) 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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