Phenotype #0000321098

Individual ID 00430290
Associated disease EDSCL1
Diagnosis/Initial -
Diagnosis/Definite -
Phenotype details Symptoms of the EDS type 1, including hyperextensible skin, tissue fragility, and bruised skin. A Beighton score of 5.
Inheritance Familial, autosomal recessive
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Owner name Nassim Louail
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Nassim Louail
Date created 2023-01-17 05:21:14 +01:00 (CET)
Date last edited 2023-03-08 12:30:20 +01:00 (CET)

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