Global Variome shared LOVD

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Phenotype #0000355632 Individual ID 00470736 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite - Inheritance Familial, autosomal recessive Phenotype details see paper; ..., global psychomotor developmental delay; no hypotonia; sit normal; 14m-walk; speech normal; mild intellectual disability; autism spectrum disorder; behaviour angry when opposed; no epilepsy; EEG normal; MRI normal; pes cavus, difficulties to climb stairs; normal kidney; diabetes; Hypertension Age/Examination 51y (51 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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