Phenotype #0000351260

Individual ID 00319464
Associated disease EDS
Inheritance Familial, autosomal recessive
Diagnosis/Initial Ehlers-Danlos syndrome
Age/Examination -
Diagnosis/Definite EDSMC1
Age/Onset -
Phenotype/Onset -
Phenotype details skin and joint laxity, developmental delay, failure to thrive, short stature, dysmorphic features (wide forehead, severe malar hypoplasia, and saggy cheeks), strabismus, decreased hearing, easy bruising, scoliosis, bilateral TEV, arthrogryposis and decreased bone density
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 2025-06-05 20:02:19 +02:00 (CEST)
Date last edited N/A

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.