Phenotype #0000129800

Individual ID 00164781
Associated disease EDS
Inheritance Familial, autosomal recessive
Diagnosis/Initial -
Age/Examination 12y (12 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, hernias, Interpedicular narrowing, severe osteopenia, structural foot deformity, congenital hypotonia, poor feeding, motor delay, diabetes mellitus, cellulitis, micrognathia, high arched palate, bilateral ptosis,
Hearing/Loss normal
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 15:53:38 +02:00 (CEST)
Date last edited 2018-06-21 13:00:59 +02:00 (CEST)

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