Global Variome shared LOVD

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

Phenotype #0000254038 Individual ID 00358823 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details 1.5m-deceased; ventricular septal defect; systolic murmur; truncus arteriosus; no tetralogy of Fallot; no interrupted aortic arch; right aortic arch; tricuspid valve atresia; persistent left superior vena cava; no partial anomalous pulmonary venous return; agenesis of corpus callosum; no microcephaly; elevated (1.3 mg/dL); anuria; no renal cysts; polydactyly; no overriding toes; edema, cyanosis, low-set ears, bilateral preauricular skin tags, webbed neck Inheritance Familial, autosomal recessive Age/Examination 1m15d 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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