Phenotype #0000073497

Individual ID 00095104
Associated disease EDS
Inheritance Familial, X-linked recessive
Diagnosis/Initial -
Age/Examination -
Diagnosis/Definite -
Age/Onset 05y
Phenotype/Onset -
Phenotype details pectus carinatum(HP0000768) scoliosis (HP0002650) mitral valve prolaps (HP0001634) aortic dilatation (HP0001724) soft skin (HP0000977) spontaneous pneumothorax (HP0002108) diaphragmatic eventration (HP0009110)
Hearing/Loss -
Protein -
CK-level -
EMG -
Muscle/Biopsy -
Age/Diagnosis -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2016-09-23 13:46:49 +02:00 (CEST)
Date last edited 2016-10-09 15:20:40 +02:00 (CEST)

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