Global Variome shared LOVD

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Phenotype #0000352921 Individual ID 00467768 Associated disease NDD Diagnosis/Initial neurodevelopmental disorders Diagnosis/Definite - Phenotype details see paper; ..., no development delay; 13m-walk; no regression; no neonatal hypotonia; hyperreflexia; epilepsy; dysmorphism (prominent nose, deep-set eyes); no intellectual disability; anxiety disorder; tremor, mitral valve prolapse; MRI brain 6y-mild WM volume loss, thin corpus callosum, brainstem hypoplasia Inheritance Familial, autosomal recessive Age/Examination 16y (16 years) Age/Diagnosis - Age/Onset 4y 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 2025-10-29 21:40:34 +01:00 (CET) Date last edited N/A

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