Global Variome shared LOVD

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Phenotype #0000355617 Individual ID 00470721 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite - Inheritance Familial, autosomal recessive Phenotype details see paper; ..., global psychomotor developmental delay; no hypotonia; 8m-sit; 16m-walk; speech 2y-first words, little speech; mild intellectual disability; autism spectrum disorder; behaviour normal; 1y-epilepsy; EEG diffuse beta-activity, multifocal isolated peaks (right frontotemporal), 1 generalised paroxysm; MRI normal; minimal frontal bossing with high frontal hairline; normal kidney Age/Examination 14y (14 years) 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 2025-12-08 15:51:34 +01:00 (CET) Date last edited N/A

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