Global Variome shared LOVD

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Phenotype #0000350418 Individual ID 00464395 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite MRD50 Inheritance Unknown Phenotype details see paper; ..., (growth parameters); no feeding difficulties; motor delay (HP:0001270), 2y-walk; normal cognitive abilities, likely low IQ; mild autistic features (HP:0000729); delayed speech (HP:0000750), 4y-sentences; no seizures; normal muscle tone; mild facial dysmorphism (HP:0001999), small mouth (HP:0000160), low set ears (HP:0000369); no skeletal anomalies; normal connective tissue; hypermetropia and strabismus Age/Examination 31y (31 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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