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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 |
| Retinitis pigmentosa | nervous | 100 % | 21295282 | 2024-05-06 | |
| Visual impairment | nervous | 100 % | 21295282 | 2024-05-06 | |
| Visual field extent over time | nervous | 100 % | 21295282 | 2024-05-06 | |
| Visual acuity changes with age | nervous | 100 % | 21295282 | 2024-05-06 | |
| Photoreceptor layer thickness topography | nervous | 100 % | 21295282 | 2024-05-06 |
List of references:
A missense mutation in DHDDS, encoding dehydrodolichyl diphosphate synthase, is associated with autosomal-recessive retinitis pigmentosa in Ashkenazi Jews.
Lina Zelinger, Eyal Banin, Alexey Obolensky, Liliana Mizrahi-Meissonnier, Avigail Beryozkin, Dikla Bandah-Rozenfeld, Shahar Frenkel, Tamar Ben-Yosef, Saul Merin, Sharon B Schwartz, Artur V Cideciyan, Samuel G Jacobson, Dror Sharon,
American journal of human genetics - Feb 2011