Global Variome shared LOVD

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Phenotype #0000308039 Individual ID 00416272 Associated disease del 1p36 Diagnosis/Initial 1p36 deletion syndrome Diagnosis/Definite - Phenotype details feeding difficulty; patent ductus arteriosus, ventricular septal defect; microcephaly, hypertelorism, prominent ears, depressed/flat nasal bridge, short neck, wide-spaced nipples, sacral dimple/sinus, proximally-set halluces; hiatal hernia Inheritance Isolated (sporadic) Age/Examination 1m 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 2022-08-26 10:31:45 +02:00 (CEST) Date last edited N/A

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