| Contact us | |
| Return to database |
Prevalence (%) of clinical parameters based on data from 1 references describing 2 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 |
| Hypotonia | skeletal | 100 % | 14973782 | 2024-04-26 | |
| Seizures | nervous | 100 % | 14973782 | 2024-04-26 | |
| Hypothermia | nervous | 100 % | 14973782 | 2024-04-26 | |
| Microcephaly | nervous | 100 % | 14973782 | 2024-04-26 | |
| Respiratory failure | respiratory | 100 % | 14973782 | 2024-04-26 | |
| Incapable of visual fixation | nervous | 100 % | 14973782 | 2024-04-26 | |
| Decrease of circulating B-cells | lymphatic | 100 % | 14973782 | 2024-04-26 | |
| Immune deficiency | lymphatic | 100 % | 14973782 | 2024-04-26 | |
| Proteinuria | urinary | 100 % | 14973782 | 2024-04-26 | |
| Coagulopathy | circulatory | 100 % | 14973782 | 2024-04-26 | |
| Stupor | nervous | 100 % | 14973782 | 2024-04-26 | |
| Cerebral atrophy | nervous | 100 % | 14973782 | 2024-04-26 | |
| Agammaglobulinemia | lymphatic | 100 % | 14973782 | 2024-04-26 |
List of references:
Congenital disorder of glycosylation type Ik (CDG-Ik): a defect of mannosyltransferase I.
Christian Kranz, Jonas Denecke, Ludwig Lehle, Kristina Sohlbach, Stefanie Jeske, Friedhelm Meinhardt, Rainer Rossi, Sonja Gudowius, Thorsten Marquardt,
American journal of human genetics - Mar 2004