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Summary
OCCIPITAL HORN SYNDROME
EHLERS DANLOS SYNDROME TYPE IX CUTIS LAXA, X-LINKED
304150
OMIM = Online Medalian Inheritance of Men
198
Xq21.1
rare
X-linked
symptoms
arachnodyctyly
behavior, abnormal or bizarre, confusion
bladder divertikulae
cutis laxa
decreased muscle volume, atrophy or hypoplasia
diarrhea
hair, abnormal (thin, brittle, fine)
hernia
hydronephrosis
hypotension
infections (urinary tract)
joint hypermobilty, dislocations
limb abnormalities, limb deformities
mental retardation
skin defects
skin, abnormal
X-ray, abnormalities
laboratory finding
Copper 20.0070.00decreasedserum
Ceruloplasmin 15.0050.00decreasedserum
Pyridinoline 7.0014.00decreasedurine
Deoxypyrodinoline 1.303.70decreasedurine
crosslinks
Lysyl oxidase decreased activityfibroblasts
Literature
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