Global Variome shared LOVD

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Phenotype #0000337354 Individual ID 00448139 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite - Phenotype details height -3.28SD; profound developmental delay/intellectual disability; delayed walking; no speech; dysmorphic facial features; skeletal anomalies feet, thorax; severe dilated cardiomyopathy, cardiac transplantation impossible; ventricular septal defect repaired, patent ductus arteriosus; abnormal muscle tone; seizures; autism spectrum disorder; digestive problems, tube feeding, EoE, dysphagia, megacolon; visual anomalies; urogenital/kidney anomalies; MRI brain decreased brain volume Inheritance Isolated (sporadic) Age/Examination 20y (20 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 2024-02-18 13:47:08 +01:00 (CET) Date last edited N/A

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