Phenotype #0000129795

Individual ID 00164777
Associated disease EDS
Inheritance Familial, autosomal recessive
Diagnosis/Initial -
Age/Examination 35y (35 years)
Diagnosis/Definite -
Age/Onset -
Phenotype/Onset -
Phenotype details Joint hypermobility, Dislocations, Hyperextensible skin, Redundant skin, Poor wound healing, Atypical scarring of skin, Bruising susceptibility, Mitral valve prolapse, Severe osteopenia, Structural foot deformity, cryptorchidism, motor delay, impaired temperature sensation, keratoconjuncitivitis sicca, Piezogenic pedal papules
Hearing/Loss nr
Protein -
CK-level -
EMG -
Muscle/Biopsy -
Age/Diagnosis -
Owner name Moritz Hebebrand
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Moritz Hebebrand
Date created 2018-06-12 14:57:53 +02:00 (CEST)
Date last edited 2018-06-21 12:46:54 +02:00 (CEST)

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.