Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000242706 Individual ID 00324125 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details 5y-OFC -2.5 SD; severe intellectual disability or developmental delay; 1d-apnea, cyanosis; epilepsy; atrial septal defect Inheritance Isolated (sporadic) Age/Examination 5y (5 years) Age/Diagnosis - Age/Onset 1d Phenotype/Onset 1d-apnea, cyanosis Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-12-01 12:19:20 +01:00 (CET) Date last edited N/A

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