Phenotype #0000000804

Individual ID 00001642
Associated disease EDS
Inheritance Unknown
Diagnosis/Initial -
Age/Examination -
Diagnosis/Definite -
Age/Onset -
Phenotype/Onset -
Phenotype details hypermobility of large joints; hypermobility of small joints; progressive kyphoscoliosis;flat feet; muscle hypotonia at birth; poor head control in infancy; weakness improving in infancy; delayed motor development; muscular atrophy; eyse bluish sclerae; skin: hyperelastic, soft, plantar softness, follicular hyperkeratosis, hypertrophic scars
Hearing/Loss hearing loss
Protein -
CK-level normal
EMG 3m normal; 15ymyopathic
Muscle/Biopsy 2y quadriceps, irregular oxidative enzymes; EM focal myofibrillar rearrangments
Age/Diagnosis -
Owner name Division of Human Genetics, Innsbruck
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Division of Human Genetics, Innsbruck
Date created 2012-06-29 11:49:44 +02:00 (CEST)
Date last edited 2017-11-10 14:16:12 +01:00 (CET)

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