Global Variome shared LOVD

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

Phenotype #0000318904 Individual ID 00427959 Associated disease SCDO3 Phenotype details Polyhydramnios HP:0001561 Respiratory distress HP:0002098 Kyphoscoliosis HP:0002751 Rib fusion HP:0000902 Hemivertebrae HP:0002937 Thoracic dysplasia HP:0006644 Pulmonary hypoplasia HP:0002089 Absent/hypoplastic coccyx HP:0008436 Diagnosis/Initial skeletal dysplasia Inheritance Familial, autosomal recessive Diagnosis/Definite Spondylocostal dysostosis 3 Age/Examination 00y01m (1 month) Age/Diagnosis - Age/Onset - Phenotype/Onset prenatal 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 16:32:51 +01:00 (CET) Date last edited 2022-12-19 17:09:24 +01:00 (CET)

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