Global Variome shared LOVD

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Phenotype #0000350400 Individual ID 00464377 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite MRD50 Inheritance Isolated (sporadic) Phenotype details see paper; ..., (growth parameters); mild delay in motor skills; mild delay in cognition; autism spectrum disorder (HP:0000729); delayed speech (HP:0000750); no seizures; no facial dysmorphism; no cardiavacular anomalies; no skeletal anomalies; normal connective tissue; congenital diaphragmatic hernia (HP:0000776) (bochdalek, left sided), lung hypoplasia (HP:0002089), extracorporeal membrane oxygenation (ECMO); positional plagiocephaly, mild torticollis resolved with helmet Age/Examination 1.5y Age/Diagnosis - Age/Onset <0d 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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