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Prevalence (%) of clinical parameters based on data from 1 references describing 39 individuals
Add new symptom/sign to this disease
List of symptoms
Symptom/sign |
Organ system |
Percent affected |
Pubmed id |
Added on(yyyy-mm-dd) |
Edit/add reference |
Short stature |
skeletal |
100 % |
10653321 |
2015-12-03 |
|
Ovoid flat vertebrae |
skeletal |
97 % |
10653321 |
2015-12-03 |
|
Hypertension |
circulatory |
97 % |
10653321 |
2015-12-03 |
|
Lymphopenia |
circulatory |
95 % |
10653321 |
2015-12-03 |
|
Lumbar lordosis |
skeletal |
94 % |
10653321 |
2015-12-03 |
|
Abnormal femoral head |
skeletal |
94 % |
10653321 |
2015-12-03 |
|
Hypoalbuminemia |
circulatory |
94 % |
10653321 |
2015-12-03 |
|
Edema |
integumentary |
94 % |
10653321 |
2015-12-03 |
|
Short neck |
skeletal |
91 % |
10653321 |
2015-12-03 |
|
Renal failure |
urinary |
88 % |
10653321 |
2015-12-03 |
|
Focal segmental glomerulosclerosis |
urinary |
87 % |
10653321 |
2015-12-03 |
|
Bulbuos nasal tip |
integumentary |
85 % |
10653321 |
2015-12-03 |
|
Low nasal bridge |
skeletal |
81 % |
10653321 |
2015-12-02 |
|
Hypoplastic pelvis |
skeletal |
81 % |
10653321 |
2015-12-03 |
|
Intrauterine growth retardation |
multi |
70 % |
10653321 |
2015-12-03 |
|
Anemia |
circulatory |
69 % |
10653321 |
2015-12-03 |
|
Stroke |
nervous |
49 % |
10653321 |
2015-12-03 |
|
Hypothyroidism |
endocrine |
48 % |
10653321 |
2015-12-03 |
|
Recurrent infections |
lymphatic |
48 % |
10653321 |
2015-12-03 |
|
Neutropenia |
circulatory |
44 % |
10653321 |
2015-12-03 |
|
Thrombocytopenia |
circulatory |
41 % |
10653321 |
2015-12-03 |
|
Arteriosclerosis |
circulatory |
41 % |
10653321 |
2015-12-03 |
|
Microdontia |
skeletal |
38 % |
10653321 |
2015-12-03 |
|
Corneal opacities |
nervous |
27 % |
10653321 |
2015-12-03 |
|
Developmental delay |
nervous |
19 % |
10653321 |
2015-12-03 |
|
Moyamoya phenomenon |
circulatory |
18 % |
10653321 |
2015-12-03 |
|
Decreased growth hormone |
endocrine |
5 % |
10653321 |
2015-12-03 |
|
List of references:
Manifestations and treatment of Schimke immuno-osseous dysplasia: 14 new cases and a review of the literature. C F Boerkoel, S O'Neill, J L André, P J Benke, R Bogdanovíć, M Bulla, A Burguet, S Cockfield, I Cordeiro, J H Ehrich, S Fründ, D F Geary, A Ieshima, F Illies, M W Joseph, I Kaitila, G Lama, B Leheup, M D Ludman, D R McLeod, A Medeira, D V Milford, T Ormälä, Z Rener-Primec, A Santava, H G Santos, B Schmidt, G C Smith, J Spranger, N Zupancic, R Weksberg,
European journal of pediatrics - 2000
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