Global Variome shared LOVD

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Phenotype #0000346460 Individual ID 00458010 Associated disease ? Diagnosis/Initial mitochondriopathy Diagnosis/Definite MMDS9B Phenotype details see paper; ..., 2.3y-deceased; optic atrophy; MRI brain decreased corpus callosum, chronic extra-axial collections in bilateral frontal convexities abnormal frontal lobe; no seizures; EEG diffuse cerebral function; global development delay; regression; hypotonia; no spasticity; no ataxia Inheritance Familial, autosomal recessive Age/Examination 2.3y 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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