Global Variome shared LOVD

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Phenotype #0000346463 Individual ID 00458013 Associated disease ? Diagnosis/Initial mitochondriopathy Diagnosis/Definite MMDS9B Phenotype details see paper; ..., microcephaly; optic atrophy; MRI brain cerebral atrophy, abnormal white matter periventricular signal; nfantile spasms, seizures; EEG chaotic background with spasm; global development delay; regression; no hypotonia; no spasticity Inheritance Familial, autosomal recessive Age/Examination 3y (3 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2024-11-25 14:01:53 +01:00 (CET) Date last edited N/A

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