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Prevalence (%) of clinical parameters based on data from 1 references describing 75 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 |
Mental retardation |
nervous |
96 % |
20950397 |
2015-06-05 |
|
Sparse eyebrows |
integumentary |
92 % |
20950397 |
2015-06-05 |
|
Microcephaly |
nervous |
89 % |
20950397 |
2015-06-05 |
|
Thumb ankylosis |
skeletal |
85 % |
20950397 |
2015-06-05 |
|
Muscle atrophy |
skeletal |
85 % |
20950397 |
2015-06-05 |
|
Thin lips |
integumentary |
69 % |
20950397 |
2015-06-05 |
|
Triangular face |
skeletal |
63 % |
20950397 |
2015-06-05 |
|
Ear malformation |
integumentary |
50 % |
20950397 |
2015-06-05 |
|
Pyramidal signs |
nervous |
48 % |
20950397 |
2015-06-05 |
|
Strabismus |
nervous |
42 % |
20950397 |
2015-06-05 |
|
Upslanting palpebral fissures |
skeletal |
41 % |
20950397 |
2015-06-05 |
|
Phimosis |
reproductive |
40 % |
20950397 |
2015-06-05 |
|
Prominent nose |
integumentary |
32 % |
20950397 |
2015-06-05 |
|
Hypermetropia |
nervous |
31 % |
20950397 |
2015-06-05 |
|
Hypogonadism |
reproductive |
29 % |
20950397 |
2015-06-05 |
|
Autism |
nervous |
23 % |
20950397 |
2015-06-05 |
|
Anal atresia |
digestive |
6 % |
20950397 |
2015-06-05 |
|
Conductive hearing loss |
skeletal |
6 % |
20950397 |
2015-06-05 |
|
List of references:
The Renpenning syndrome spectrum: new clinical insights supported by 13 new PQBP1-mutated males. D Germanaud, M Rossi, G Bussy, D Gérard, L Hertz-Pannier, P Blanchet, H Dollfus, F Giuliano, V Bennouna-Greene, P Sarda, S Sigaudy, A Curie, M C Vincent, R Touraine, V des Portes,
Clinical genetics - Mar 2011
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