Global Variome shared LOVD

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Phenotype #0000357220 Individual ID 00472410 Associated disease EE Phenotype details see paper; ..., global developmental delay/intellectual disability; 7y-walk; no speech; dysmorphic facial features; no ataxia; epilepsy (on 3 antiseizure medication); MRI brain cerebellar hypoplasia, agenesis corpus callosum, hydrocephalus, lissencephaly, colpocephaly; blurry vision, strabismus, hydrocephalus Diagnosis/Initial epileptic encephalopathy Inheritance Unknown Diagnosis/Definite - Age/Examination 9y4m (9 years, 4 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2026-02-11 19:10:50 +01:00 (CET) Date last edited N/A

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