Global Variome shared LOVD
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Phenotype #0000354874
Individual ID
00469723
Associated disease
NTD
Phenotype details
Neurodevelopmental delay, Atrioventricular canal defect, Broad thumb, Deviation of finger, Polysyndactyly of hallux, Pectus carinatum, Genu valgum, Valvular pulmonary stenosis, Patent ductus arteriosus, Poor speech
Diagnosis/Initial
-
Inheritance
Unknown
Diagnosis/Definite
-
Age/Examination
05y (5 years)
Age/Diagnosis
-
Age/Onset
-
Phenotype/Onset
-
Protein
-
Owner name
Andreas Laner
Database submission
license
Creative Commons Attribution 4.0 International
Created by
Andreas Laner
Date created
2025-11-19 14:30:00 +01:00 (CET)
Date last edited
2025-11-19 16:42:06 +01:00 (CET)
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