Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000228846 Individual ID 00301748 Associated disease EDS Inheritance Familial, autosomal recessive Diagnosis/Initial Ehlers-Danlos-syndrome Age/Examination 10y (10 years) Diagnosis/Definite - Age/Onset - Phenotype/Onset - Phenotype details severe S-formed scoliosis, ptosis right eyelid, asymmetrical face, midface hypoplasia, shallow orbitae with pseudoexophtalmus, bilateral adducted thumbs, non progressive flexion contractures proximal finger joints, atrophy thenar muscles, overall poor muscle development; 2y-bilateral sensorineural deafness; thin and soft skin, without scarring, reduced skin creases both palms; motor development slightly retarded, cognitive function mildly impaired; sister similarly affected, no significant scoliosis 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 International Created by Johan den Dunnen Date created 2020-05-22 19:17:06 +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.