Phenotype #0000323894

Individual ID 00433374
Associated disease EDSKSCL2
Phenotype details Pectus excavatum 2nd degree. Thoracolumbar scoliosis of the third degree. Beighton score of 8. Open ductus arteriosus. Bicuspid aortic valve. Bilateral nephroptosis.
Diagnosis/Initial -
Inheritance Unknown
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis 08y
Age/Onset 00y12m
Phenotype/Onset -
Protein -
Owner name Nassim Louail
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Nassim Louail
Date created 2023-03-06 20:15:26 +01:00 (CET)
Date last edited 2023-03-08 13:04:51 +01:00 (CET)

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