Phenotype #0000000806

Individual ID 00001644
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;recurrent dislocations; progressive kyphoscoliosis;flat feet; muscle hypotonia at birth; poor head control in infancy; weakness improving in infancy; delayed motor development; muscular atrophy; skin: hyperelastic, soft, plantar softness, follicular hyperkeratosis, easy bruising
Hearing/Loss hearing loss
Protein -
CK-level normal
EMG 4m normal; 2y normal
Muscle/Biopsy 4m quadriceps, mildly myopathic; 4y paraspinal, areas with fiber atrophy, slightly increasd intrafusal fat; 6y paraspinal, areas with central activity defects of oxidative enzymes, EM: focal myofibrillar rearrangements
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 2012-07-30 16:46:16 +02:00 (CEST)
Date last edited 2017-11-10 14:16:12 +01:00 (CET)

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