Global Variome shared LOVD

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Phenotype #0000337568 Individual ID 00448378 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details see paper; ..., no neurodevelopmental delay; intellectual disability; no seizures; no dysphagia; optic atrophy; nystagmus; MRI brain mild generalized brain atrophy, total cerebral white matter volume reduction, no anomaly corpus callosum, cerebellum cortex volume reduction, anterior optic pathway volume reduction; normal EEG, pathologic visual evoked potentials Inheritance Familial, autosomal recessive Age/Examination 18y (18 years) Age/Diagnosis - Age/Onset 4y 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 2024-03-05 08:49:39 +01:00 (CET) Date last edited N/A

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