Global Variome shared LOVD

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

Phenotype #0000351344 Individual ID 00465944 Associated disease NDD Diagnosis/Initial neurodegenerative delay Diagnosis/Definite DEDISB Phenotype details see paper; ..., motor delay; speech delay; mild delay; behavioral problems; autism disorders, anxiety, aggressivity; mild intellectual disability; impaired fine motor skills, mild cerebellar ataxia, dysarthria; hyperopia; MRI subcortical white matter T2 signal hyperintensity congruent with myelination delay; high forehead, large ears; no epilepsy Inheritance Familial, autosomal dominant Age/Examination 11y (11 years) 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 2025-06-20 11:45:26 +02:00 (CEST) Date last edited N/A

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