Phenotype #0000323896

Individual ID 00433376
Associated disease EDSKSCL2
Phenotype details Pectus excavatum 2nd degree. Thoracolumbar scoliosis 4th degree. Sinus tachyarrhythmia. Bilateral sensorineural hearing loss. Astigmatism, chorioretinitis.
Diagnosis/Initial -
Inheritance Unknown
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis 15y
Age/Onset 00y24m
Phenotype/Onset -
Protein -
Owner name Nassim Louail
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Nassim Louail
Date created 2023-03-07 02:29:15 +01:00 (CET)
Date last edited 2023-03-08 13:05:54 +01:00 (CET)

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