Global Variome shared LOVD

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Phenotype #0000318905 Individual ID 00427960 Associated disease SCDO3 Phenotype details Respiratory distress HP:0002098 Hemivertebrae HP:0002937 Vertebral fusion HP:0002948 Diagnosis/Initial skeletal dysplasia Inheritance Familial, autosomal recessive Diagnosis/Definite Spondylocostal dysostosis 3 Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein Beta-1,3-N-acetylglucosaminyltransferase lunatic fringe Owner name Edoardo Errichiello Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Edoardo Errichiello Date created 2022-12-17 16:57:42 +01:00 (CET) Date last edited 2022-12-19 17:06:46 +01:00 (CET)

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