Phenotype #0000303226

Individual ID 00411136
Associated disease EDSCL1
Diagnosis/Initial -
Diagnosis/Definite -
Phenotype details Premature aged appearance, facial scars, palpebral skin redundancy, prominent eyes with greyish sclerae, and a fine nose and thin lips. Her skin was remarkably doughy, soft and hyperextensible with a few dilated, atrophic scars on her arm and varicose veins at the lower limbs. At adult age, she suffered from chronic fatigue and widespread pain, and she reported bad dental quality.
Inheritance Unknown
Age/Examination 56y (56 years)
Age/Diagnosis 20y-30y
Age/Onset ?
Phenotype/Onset -
Owner name Oumaima Nehaili
Database submission license Creative Commons Attribution-ShareAlike 4.0 InternationalCreative Commons License
Created by Oumaima Nehaili
Date created 2022-06-02 03:31:58 +02:00 (CEST)
Date last edited 2022-06-02 15:33:03 +02:00 (CEST)

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