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Prevalence (%) of clinical parameters based on data from 1 references describing 33 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 |
| Skin wrinkles | integumentary | 94 % | 24035636 | 2024-05-01 | |
| Facial dysmorphism | multi | 88 % | 24035636 | 2024-05-01 | |
| Bluish sclerae | integumentary | 88 % | 24035636 | 2024-05-01 | |
| Psychomotor regression | nervous | 82 % | 24035636 | 2024-05-01 | |
| Hypotonia | nervous | 79 % | 24035636 | 2024-05-01 | |
| Hypermobile joints | skeletal | 76 % | 24035636 | 2024-05-01 | |
| Thin translucent skin | integumentary | 73 % | 24035636 | 2024-05-01 | |
| Osteoporosis | skeletal | 58 % | 24035636 | 2024-05-01 | |
| Microcephaly | nervous | 58 % | 24035636 | 2024-05-01 | |
| Hip dysplasia | skeletal | 46 % | 24035636 | 2024-05-01 | |
| Adducted thumb syndrome | nervous | 39 % | 24035636 | 2024-05-01 | |
| Strabismus | nervous | 33 % | 24035636 | 2024-05-01 | |
| Hernia | multi | 30 % | 24035636 | 2024-05-01 | |
| Athetosis | nervous | 27 % | 24035636 | 2024-05-01 | |
| Wormian bones | skeletal | 24 % | 24035636 | 2024-05-01 | |
| Corpus callosum thining | nervous | 12 % | 24035636 | 2024-05-01 | |
| Cataract | nervous | 12 % | 24035636 | 2024-05-01 |
List of references:
Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa.
Aikaterini Dimopoulou, Björn Fischer, Thatjana Gardeitchik, Phillipe Schröter, Hülya Kayserili, Claire Schlack, Yun Li, Jaime Moritz Brum, Ingeborg Barisic, Marco Castori, Christiane Spaich, Elaine Fletcher, Zeina Mahayri, Meenakshi Bhat, Katta M Girisha, Katherine Lachlan, Diana Johnson, Shubha Phadke, Neerja Gupta, Martina Simandlova, Madhulika Kabra, Albert David, Leo Nijtmans, David Chitayat, Beyhan Tuysuz, Francesco Brancati, Stefan Mundlos, Lionel Van Maldergem, Eva Morava, Bernd Wollnik, Uwe Kornak,
Molecular genetics and metabolism - Nov 2013