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Prevalence (%) of clinical parameters based on data from 1 references describing 8 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 |
| Facial dysmorphism | multi | 88 % | 28065471 | 2024-05-09 | |
| Cutis laxa | integumentary | 88 % | 28065471 | 2024-05-09 | |
| Hypotonia | nervous | 75 % | 28065471 | 2024-05-09 | |
| Cardiac structural defects | circulatory | 75 % | 28065471 | 2024-05-09 | |
| Hip dysplasia | skeletal | 63 % | 28065471 | 2024-05-09 | |
| Entropion | integumentary | 50 % | 28065471 | 2024-05-09 | |
| Large skin folds | integumentary | 38 % | 28065471 | 2024-05-09 | |
| Kyphosis | skeletal | 38 % | 28065471 | 2024-05-09 | |
| Hypermobile joints | skeletal | 38 % | 28065471 | 2024-05-09 | |
| Marfanoid habitus | multi | 38 % | 28065471 | 2024-05-09 | |
| Seizures | nervous | 25 % | 28065471 | 2024-05-09 | |
| Contracture | nervous | 25 % | 28065471 | 2024-05-09 | |
| Aortic root dilatation | circulatory | 25 % | 28065471 | 2024-05-09 | |
| Spontaneous pneumothorax | reproductive | 25 % | 28065471 | 2024-05-09 | |
| Urogenital abnormalities | urinary | 25 % | 28065471 | 2024-05-09 |
List of references:
Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa.
Tim Van Damme, Thatjana Gardeitchik, Miski Mohamed, Sergio Guerrero-Castillo, Peter Freisinger, Brecht Guillemyn, Ariana Kariminejad, Daisy Dalloyaux, Sanne van Kraaij, Dirk J Lefeber, Delfien Syx, Wouter Steyaert, Riet De Rycke, Alexander Hoischen, Erik-Jan Kamsteeg, Sunnie Y Wong, Monique van Scherpenzeel, Payman Jamali, Ulrich Brandt, Leo Nijtmans, G Christoph Korenke, Brian H Y Chung, Christopher C Y Mak, Ingrid Hausser, Uwe Kornak, Björn Fischer-Zirnsak, Tim M Strom, Thomas Meitinger, Yasemin Alanay, Gulen E Utine, Peter K C Leung, Siavash Ghaderi-Sohi, Paul Coucke, Sofie Symoens, Anne De Paepe, Christian Thiel, Tobias B Haack, Fransiska Malfait, Eva Morava, Bert Callewaert, Ron A Wevers,
American journal of human genetics - Feb 2017