Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000346461 Individual ID 00458011 Associated disease ? Diagnosis/Initial mitochondriopathy Diagnosis/Definite MMDS9B Phenotype details see paper; ..., microcephaly; optic atrophy; MRI brain increased cerebellar atrophy, decreased cerebral white matter, decreased basal ganglia, decreased signals globus palladia and substantia nigra; EEG severe encephalopathy; global development delay; regression; hypotonia; spasticity; elongated and abnormally shaped mitochondria, abnormal morphology Inheritance Familial, autosomal recessive Age/Examination 4y (4 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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