Global Variome shared LOVD

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Phenotype #0000355621 Individual ID 00470725 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite - Inheritance Familial, autosomal recessive Phenotype details see paper; ..., global psychomotor developmental delay; hypotonia; 12m-sit; 3y-walk; speech 4y-first words, dingle words; intellectual disability; mild autism spectrum disorder; behaviour angers; epilepsy (1 seizure); MRI normal; wide open eyes, low frontal hairline; hyperlaxity; normal kidney; cryptorchidism; constipation Age/Examination 8y (8 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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