Global Variome shared LOVD

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Phenotype #0000352353 Individual ID 00467146 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite - Phenotype details see paper; ..., encephalopathy; seizures, myoclonic seizure; inappropriate laughter; agitation; abnormal repetitive mannerisms; stereotypical hand wringing; no speech; global developmental delay; delayed gross motor development; inability to walk; hyperreflexia; hypoplasia corpus callosum; cerebral cortical atrophy; cerebellar cortical atrophy; abnormal cerebral white matter morphology; failure to thrive; constipation; hypertonia Inheritance Familial, autosomal recessive Age/Examination - 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 2025-10-08 11:17:07 +02:00 (CEST) Date last edited 2025-10-08 11:42:41 +02:00 (CEST)

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