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Clinical symptoms
|
Number of criteria, %
|
|---|
|
Changes in facial features by «gargoylism» type
|
100
|
|
Short stature
|
95
|
|
Skeletal anomalies (dysostosis multiplex)
|
100
|
|
Pathologies of the cardiovascular system
|
100
|
|
Cardiomyopathy
|
35
|
|
Anomalies of the heart valves
|
100
|
|
Narrowing of coronary arteries
|
10
|
|
Rhythm disturbance
|
20
|
|
Obstructive conditions of the respiratory tract
|
100
|
|
Obstructive sleep apnea
|
55
|
|
Decrease in lung capacity
|
100
|
|
Hepatosplenomegaly
|
100
|
|
Stiffness of major and small joints
|
100
|
|
Umbilical or inguinal and inguinal-scrotal hernia
|
83
|
|
Papular eruption on the skin
|
5
|
|
Retinitis pigmentosa
|
5
|
|
Progressive conductive or neurosensory hearing loss
|
85
|
|
Impairments of the nervous system
|
85
|
|
Mental retardation
|
75
|
|
Tonic–clonic convulsions
|
55
|
