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Prevalence (%) of clinical parameters based on data from 1 references describing 75 individuals
Add new symptom/sign to this disease
| Pubmed id number as a reference | Organ system affected | ||
| Number of patients in the reference | Percent affected patients (Between 0 and 1, eg. 0.1 = 10%) | ||
| Please provide your name and contact information as a reference | |||
| Name | Institute | Phone number | Email address |
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