Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies), Type A, 12 |
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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 |
| Elevated creatine kinase (CK) levels | circulatory | 100 % | 37766827 | 2024-04-30 | |
| Disequilibrium | nervous | 100 % | 37766827 | 2024-04-30 | |
| Dystrophic muscles | skeletal | 100 % | 37766827 | 2024-04-30 | |
| Hypotonia | nervous | 100 % | 37766827 | 2024-04-30 | |
| Speech delay | nervous | 100 % | 37766827 | 2024-04-30 | |
| Mental retardation | nervous | 100 % | 37766827 | 2024-04-30 | |
| Developmental delay | multi | 100 % | 37766827 | 2024-04-30 | |
| Muscle weakness | skeletal | 100 % | 37766827 | 2024-04-30 | |
| Cerebral atrophy | nervous | 50 % | 37766827 | 2024-04-30 | |
| Hydrocephalus | nervous | 50 % | 37766827 | 2024-04-30 | |
| Cobblestone lissencephaly | nervous | 50 % | 37766827 | 2024-04-30 | |
| Mega cisterna magna | nervous | 50 % | 37766827 | 2024-04-30 | |
| Contracture | nervous | 50 % | 37766827 | 2024-04-30 | |
| Blindness | nervous | 50 % | 37766827 | 2024-04-30 | |
| Visual impairment | nervous | 50 % | 37766827 | 2024-04-30 | |
| Glaucoma | nervous | 50 % | 37766827 | 2024-04-30 | |
| Seizures | nervous | 50 % | 37766827 | 2024-04-30 |
List of references:
DPAGT1-CDG: Report of Two New Pediatric Patients and Brief Review of the Literature.
Özlem Özsoy, Tayfun Cinleti, Çağatay Günay, Gamze Sarıkaya Uzan, Mehmet Can Yeşilmen, Hanns Lochmüller, Rita Horvath, Uluç Yiş, Yavuz Oktay, Semra Hiz Kurul,
Molecular syndromology - Aug 2023