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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 |
| Serum transferrin isoelectric focusing disialo elevation | circulatory | 100 % | 11733564 | 2024-05-09 | |
| Serum transferrin isoelectric focusing tetrasialo decrease | circulatory | 100 % | 11733564 | 2024-05-09 | |
| Mental retardation | nervous | 100 % | 11733564 | 2024-05-09 | |
| Psychomotor retardation | nervous | 100 % | 11733564 | 2024-05-09 | |
| Hypotonia | nervous | 66 % | 11733564 | 2024-05-09 | |
| Kidney cysts | urinary | 33 % | 11733564 | 2024-05-09 | |
| Pericardial effusion | circulatory | 33 % | 11733564 | 2024-05-09 | |
| Ventricular enlargement brain | nervous | 33 % | 11733564 | 2024-05-09 | |
| Enlarged subarachnoid spaces | nervous | 33 % | 11733564 | 2024-05-09 | |
| Dysrhythmia | circulatory | 33 % | 11733564 | 2024-05-09 | |
| Hypsarrhythmia | nervous | 33 % | 11733564 | 2024-05-09 | |
| Optic nerve atrophy | nervous | 33 % | 11733564 | 2024-05-09 | |
| Pale papillae | nervous | 33 % | 11733564 | 2024-05-09 | |
| Increased blood CK | circulatory | 33 % | 11733564 | 2024-06-14 | |
| Thrombocytopenia | circulatory | 33 % | 11733564 | 2024-05-09 | |
| Feeding difficulties | digestive | 33 % | 11733564 | 2024-05-09 | |
| Visual impairment | nervous | 33 % | 11733564 | 2024-05-09 | |
| Thin lips | integumentary | 33 % | 11733564 | 2024-05-09 | |
| Seizures | nervous | 33 % | 11733564 | 2024-05-09 | |
| Facial dysmorphism | multi | 33 % | 11733564 | 2024-05-09 |
List of references:
MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If.
B Schenk, T Imbach, C G Frank, C E Grubenmann, G V Raymond, H Hurvitz, I Korn-Lubetzki, S Revel-Vik, A Raas-Rotschild, A S Luder, J Jaeken, E G Berger, G Matthijs, T Hennet, M Aebi,
The Journal of clinical investigation - Dec 2001