Global Variome shared LOVD

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Phenotype #0000000807 Individual ID 00001645 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; skin: soft, plantar softness, follicular hyperkeratosis Hearing/Loss normal Protein - CK-level normal EMG 1y myopatic Muscle/Biopsy 2y quadriceps, mildly mypathic; 6y myopathic; 12y dorsal, myopathic with increased variation of fiber diameter, EM: bifurcation of sarcomeres, small zones of Z-band streaming and some disorganized myofibrils Age/Diagnosis - Owner name Division of Human Genetics, Innsbruck Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Division of Human Genetics, Innsbruck Date created 2012-07-30 17:04:47 +02:00 (CEST) Date last edited 2017-11-10 14:16:12 +01:00 (CET)

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