Global Variome shared LOVD

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Phenotype #0000351313 Individual ID 00465864 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite MRT48 Inheritance Familial, autosomal recessive Phenotype details dsee paper; ..., moderate-severe intellectual disability; neonatal period cried excessively; psychomotor development delayed; progressive tremor; small hand length Age/Examination - 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 2025-06-10 16:22:21 +02:00 (CEST) Date last edited 2025-06-10 16:25:49 +02:00 (CEST)

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