Global Variome shared LOVD

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Phenotype #0000350397 Individual ID 00464374 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite MRD50 Inheritance Isolated (sporadic) Phenotype details see paper; ..., (growth parameters); abnormality of movement (HP:0100022), delayed; moderate intellectual disability (HP:0002342); poor attention; delayed verbal; no seizures; MRI brain normal; hypotonia (HP:0001290); ventricular septal defect repaired by surgery in infancy; clinodactyly feet (HP:0001863); profound perspiration from birth Age/Examination 6y (6 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 2025-03-08 17:44:25 +01:00 (CET) Date last edited N/A

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