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Prevalence (%) of clinical parameters based on data from 1 references describing 7 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 |
| Nystagmus | nervous | 100 % | 20637498 | 2024-04-30 | |
| Hypotonia | nervous | 100 % | 20637498 | 2024-04-30 | |
| Mental retardation | nervous | 100 % | 20637498 | 2024-04-30 | |
| Coloboma | nervous | 86 % | 20637498 | 2024-04-30 | |
| Increased blood transaminase | circulatory | 86 % | 20637498 | 2024-04-30 | |
| Optic atrophy | nervous | 71 % | 20637498 | 2024-04-30 | |
| Microcytic anemia | circulatory | 71 % | 20637498 | 2024-04-30 | |
| Coagulopathy | circulatory | 71 % | 20637498 | 2024-04-30 | |
| Decreased blood protein S | circulatory | 71 % | 20637498 | 2024-04-30 | |
| Decreased blood protein P | circulatory | 71 % | 20637498 | 2024-04-30 | |
| Decreased blood antithrombin III | circulatory | 71 % | 20637498 | 2024-04-30 | |
| Cerebral atrophy | nervous | 71 % | 20637498 | 2024-04-30 | |
| Erythroderma | integumentary | 57 % | 20637498 | 2024-04-30 | |
| Cataract | nervous | 43 % | 20637498 | 2024-04-30 | |
| Feeding difficulties | digestive | 43 % | 20637498 | 2024-04-30 | |
| Dystonia | nervous | 43 % | 20637498 | 2024-04-30 | |
| Cardiac structural defects | circulatory | 14 % | 20637498 | 2024-04-30 |
List of references:
SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder.
Vincent Cantagrel, Dirk J Lefeber, Bobby G Ng, Ziqiang Guan, Jennifer L Silhavy, Stephanie L Bielas, Ludwig Lehle, Hans Hombauer, Maciej Adamowicz, Ewa Swiezewska, Arjan P De Brouwer, Peter Blümel, Jolanta Sykut-Cegielska, Scott Houliston, Dominika Swistun, Bassam R Ali, William B Dobyns, Dusica Babovic-Vuksanovic, Hans van Bokhoven, Ron A Wevers, Christian R H Raetz, Hudson H Freeze, Eva Morava, Lihadh Al-Gazali, Joseph G Gleeson,
Cell - Jul 2010