| Contact us | |
| Return to database |
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 |
| Psychomotor retardation | nervous | 100 % | 30115659 | 2024-05-14 | |
| Seizures | nervous | 100 % | 30115659 | 2024-05-14 | |
| Ataxia | nervous | 100 % | 30115659 | 2024-05-14 | |
| Microcephaly | nervous | 100 % | 30115659 | 2024-05-14 | |
| Thrombocytopenia | circulatory | 100 % | 30115659 | 2024-05-14 | |
| Iron deficiency | circulatory | 100 % | 30115659 | 2024-05-14 | |
| Menorrhagia | reproductive | 100 % | 30115659 | 2024-05-14 | |
| Bruising | circulatory | 100 % | 30115659 | 2024-05-14 | |
| Choreiform movements | nervous | 100 % | 30115659 | 2024-05-14 | |
| Mental retardation | multi | 0 % | 30115659 | 2024-06-14 |
List of references:
A mutation in the gene coding for the sialic acid transporter SLC35A1 is required for platelet life span but not proplatelet formation.
Alexandre Kauskot, Tiffany Pascreau, Frédéric Adam, Arnaud Bruneel, Christelle Reperant, Marc-Damien Lourenco-Rodrigues, Jean-Philippe Rosa, Rachel Petermann, Hélène Maurey, Claire Auditeau, Dominique Lasne, Cécile V Denis, Marijke Bryckaert, Pascale de Lonlay, Cécile Lavenu-Bombled, Judith Melki, Delphine Borgel,
Haematologica - Dec 2018