Global Variome shared LOVD

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Phenotype #0000350412 Individual ID 00464389 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite MRD50 Inheritance Isolated (sporadic) Phenotype details see paper; ..., (growth parameters); no feeding difficulties; normal gross motor abilities, poor fine motor motor abilities; Intellectual disability (HP:0001249); autism spectrum disorder (HP:0000729); basic speech, 1.5y-11 words, then lost speech, gradually returned; no seizures; normal muscle tone; prominent forehead, mild retrognathia; aortic root at upper limit of normal (35 mm), otherwise normal LV and valves; marfanoid habitus, striae Age/Examination 18y (18 years) Age/Diagnosis - Age/Onset 1.5y 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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