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Prevalence (%) of clinical parameters based on data from 1 references describing 4 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 |
| Ichthyosis | integumentary | 75 % | 17273964 | 2024-04-30 | |
| Hypotonia | nervous | 50 % | 17273964 | 2024-04-30 | |
| Cardiomyopathy | circulatory | 50 % | 17273964 | 2024-04-30 | |
| Cataract | nervous | 50 % | 17273964 | 2024-04-30 | |
| Tetraplegia | nervous | 25 % | 17273964 | 2024-04-30 | |
| Hypsarrhythmia | nervous | 25 % | 17273964 | 2024-04-30 | |
| Seizures | nervous | 25 % | 17273964 | 2024-04-30 | |
| Microcephaly | nervous | 25 % | 17273964 | 2024-04-30 | |
| Bradycardia | circulatory | 25 % | 17273964 | 2024-04-30 | |
| Diarrhea | digestive | 25 % | 17273964 | 2024-04-30 | |
| Nystagmus | nervous | 25 % | 17273964 | 2024-04-30 | |
| Hyperkeratinosis | integumentary | 25 % | 17273964 | 2024-04-30 | |
| Vomiting | digestive | 25 % | 17273964 | 2024-04-30 | |
| Hypotension | circulatory | 25 % | 17273964 | 2024-04-30 | |
| Hypoketotic hypoglycemia | multi | 25 % | 17273964 | 2024-04-30 |
List of references:
A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy.
Christian Kranz, Christoph Jungeblut, Jonas Denecke, Anne Erlekotte, Christina Sohlbach, Volker Debus, Hans Gerd Kehl, Erik Harms, Anna Reith, Sonja Reichel, Helfried Grobe, Gerhard Hammersen, Ulrich Schwarzer, Thorsten Marquardt,
American journal of human genetics - Mar 2007