Global Variome shared LOVD

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Phenotype #0000338718 Individual ID 00449544 Associated disease NDD Diagnosis/Initial developmental delay, intellectual disability, dysmorphic features Diagnosis/Definite - Phenotype details see paper; ..., 4m-deceased, no prenatal complications; no hypotonia; 28d-seizures noted after cardiac arrest and prolonged hypotensive episode2m-recurrent seizure, EEG right and left frontal and temporal sharps and rare spikes, poorly formed sleep architecture; brain MRI/CT normal; hypoplastic left heart syndrome, AS, MS, LA egress obstruction, interrupted aortic arch; no genitourinary anomalies; jejunal atresia, microcolon; slightly triangular face, mild hypertelorism, low-set small ears with upturned lobules; non-union of the sternum; unknown coagulopathy; chylous effusions Inheritance Isolated (sporadic) Age/Examination 4m 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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