Phenotype #0000337249

Individual ID 00448060
Associated disease EDS
Inheritance Familial, autosomal recessive
Diagnosis/Initial Ehlers-Danlos syndrome VI
Age/Examination -
Diagnosis/Definite -
Age/Onset -
Phenotype/Onset -
Phenotype details see paper; ..., corneal rupture; myopia; blue sclera; no keratoconus; keratoglobus; megalocornea; no poor healing/abnormal scarring; no soft skin/easy bruising; no treatment for developmental dysplasia hip; no femoral epiphyseal changes; scoliosis; small joint hypermobility; no fractures; no myalgia; no abnormal gait; deafness; severe scleral fragility; skin hyperelasticity
Hearing/Loss -
Protein -
CK-level -
EMG -
Muscle/Biopsy -
Age/Diagnosis -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2024-02-14 13:52:54 +01:00 (CET)
Date last edited N/A

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