Renpenning syndrome

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Prevalence (%) of clinical parameters based on data from 1 references describing 75 individuals







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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%)
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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