Global Variome shared LOVD

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

Phenotype #0000254040 Individual ID 00358825 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details 1y-deceased; ventricular septal defect; systolic murmur; no truncus arteriosus; tetralogy of Fallot, pulmonic atresia, major aortopulmonary collateral arteries; no interrupted aortic arch; no right aortic arch; no tricuspid valve atresia; no persistent left superior vena cava; no partial anomalous pulmonary venous return; microcephaly; elevated creatinine levels (1.93 mg/dL); no renal cysts; no polydactyly; no overriding toes; generalized edema, cyanosis, facial dysmorphism, hypotonia Inheritance Familial, autosomal recessive Age/Examination 1y (1 year) Age/Diagnosis - Age/Onset - Phenotype/Onset - 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 2021-03-14 09:54:57 +01:00 (CET) Date last edited N/A

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