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Prevalence (%) of clinical parameters based on data from 1 references describing 3 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 |
| Weight loss | multi | 100 % | 25261934 | 2016-11-10 | |
| Cancer | digestive | 100 % | 25261934 | 2016-11-10 | |
| Micrognathia | skeletal | 100 % | 25261934 | 2016-11-10 | |
| Lipodystrophy | integumentary | 100 % | 25261934 | 2016-11-10 | |
| Muscle atrophy | skeletal | 100 % | 25261934 | 2016-11-10 | |
| Attention deficit | nervous | 100 % | 25261934 | 2016-11-10 | |
| Contracture | skeletal | 100 % | 25261934 | 2016-11-10 | |
| Single palmar creases | integumentary | 100 % | 25261934 | 2016-11-10 | |
| Short stature | skeletal | 33 % | 25261934 | 2016-11-10 | |
| Cataract | nervous | 33 % | 25261934 | 2016-11-10 | |
| Graying of hair | integumentary | 33 % | 25261934 | 2016-11-10 |
List of references:
Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features.
Davor Lessel, Bruno Vaz, Swagata Halder, Paul J Lockhart, Ivana Marinovic-Terzic, Jaime Lopez-Mosqueda, Melanie Philipp, Joe C H Sim, Katherine R Smith, Judith Oehler, Elisa Cabrera, Raimundo Freire, Kate Pope, Amsha Nahid, Fiona Norris, Richard J Leventer, Martin B Delatycki, Gotthold Barbi, Simon von Ameln, Josef Högel, Marina Degoricija, Regina Fertig, Martin D Burkhalter, Kay Hofmann, Holger Thiele, Janine Altmüller, Gudrun Nürnberg, Peter Nürnberg, Melanie Bahlo, George M Martin, Cora M Aalfs, Junko Oshima, Janos Terzic, David J Amor, Ivan Dikic, Kristijan Ramadan, Christian Kubisch,
Nature genetics - Nov 2014