Phenotype #0000323895

Individual ID 00433375
Associated disease EDSKSCL2
Phenotype details Thoracolumbar dextroscoliosis 3rd degree. Osteoporosis. Beighton score of 8. Sinus arrhythmia. Pulmonary function impairment. Mild to bilateral sensorineural hearing loss.
Diagnosis/Initial -
Inheritance Unknown
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis 11y
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 2023-03-06 20:27:42 +01:00 (CET)
Date last edited 2023-03-08 13:05:22 +01:00 (CET)

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