Global Variome shared LOVD

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Phenotype #0000227624 Individual ID 00300309 Associated disease ? Diagnosis/Initial - Diagnosis/Definite BRKS2 Phenotype details Miscarriage 18+0, Karyotype from placental sample: mos 47, XY,+12(2)/ 46,XY (28), Array CGH from DNA of skin sample of fetus mortus was normal, obduction revealed cleft palate and gastroschisis or omphalocele, previous pregnancy miscarried 33+0, obduction: no structural abnormalities Inheritance Unknown Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Andreas Laner Database submission license Creative Commons Attribution 4.0 International Created by Johan den Dunnen Date created 2020-04-30 17:31:09 +02:00 (CEST) Date last edited N/A

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