Phenotype #0000315986

Individual ID 00424791
Associated disease EDSCL1
Diagnosis/Initial -
Diagnosis/Definite -
Phenotype details Poor healing was noted following a tympanoplasty. Patient fractured his wrist and elbow while playing basketball. He experienced multiple spontaneous knee dislocations beginning at 9 years of age and generalized joint hypermobility, loose skin, excessive bruising, and poor scarring.
Inheritance Familial, autosomal dominant
Age/Examination 13y (13 years)
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 2022-11-22 02:00:03 +01:00 (CET)
Date last edited 2022-11-22 18:06:15 +01:00 (CET)

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