Global Variome shared LOVD

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Phenotype #0000338727 Individual ID 00449553 Associated disease NDD Diagnosis/Initial developmental delay, intellectual disability, dysmorphic features Diagnosis/Definite - Phenotype details see paper; ..., 33w-premature delivery; developmental delay and/or intellectual disability; delayed speech, delayed language; no autism; adjustment disorder with depressed mood; no hypotonia; no seizure; brain MRI/CT normal; dextrocardia, interrupted IVC, atrial septal defect, ventricular septal defect, patent ductus arteriosus; no genitourinary anomalies; midline liver, right-sided stomach; almond-shaped eyes, small hyperpigmented macule under right breast; dermatomyositis; stage 4B mixed cellularity Hodgkin lymphoma; functional asplenia Inheritance Unknown Age/Examination 21y (21 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2024-04-22 10:35:23 +02:00 (CEST) Date last edited N/A

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