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Prevalence (%) of clinical parameters based on data from 1 references describing 8 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 % | 23856421 | 2024-04-30 | |
| Hypotonia | nervous | 100 % | 23856421 | 2024-04-30 | |
| Abnormal clotting factors | circulatory | 100 % | 23856421 | 2024-04-30 | |
| Microcephaly | nervous | 100 % | 23856421 | 2024-04-30 | |
| Seizures | nervous | 88 % | 23856421 | 2024-04-30 | |
| Blindness | nervous | 88 % | 23856421 | 2024-04-30 | |
| Optic atrophy | nervous | 88 % | 23856421 | 2024-04-30 | |
| Nystagmus | nervous | 88 % | 23856421 | 2024-04-30 | |
| Increased blood CK | circulatory | 75 % | 23856421 | 2024-06-14 | |
| Increased blood transaminase | circulatory | 50 % | 23856421 | 2024-04-30 | |
| Cerebellar atrophy | nervous | 25 % | 23856421 | 2024-04-30 | |
| Hypomyelination | nervous | 25 % | 23856421 | 2024-04-30 | |
| Frontal lobe atrophy | nervous | 25 % | 23856421 | 2024-04-30 |
List of references:
Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy.
Amy C Yang, Bobby G Ng, Steven A Moore, Jeffrey Rush, Charles J Waechter, Kimiyo M Raymond, Tobias Willer, Kevin P Campbell, Hudson H Freeze, Lakshmi Mehta,
Molecular genetics and metabolism - Nov 2013