Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies), Type A, 7 |
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Prevalence (%) of clinical parameters based on data from 1 references describing 7 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 |
| Cerebellar atrophy | nervous | 86 % | 22522420 | 2024-05-28 | |
| Increased blood CK | circulatory | 57 % | 22522420 | 2024-05-17 | |
| Cataract | nervous | 57 % | 22522420 | 2024-05-17 | |
| Corpus callosum thining | nervous | 43 % | 22522420 | 2024-05-17 | |
| Brainstem hypoplasia | nervous | 43 % | 22522420 | 2024-05-17 | |
| Microphthalmia | nervous | 43 % | 22522420 | 2024-05-17 | |
| Heterotopia | nervous | 29 % | 22522420 | 2024-05-17 | |
| White matter hyperintensities | nervous | 29 % | 22522420 | 2024-05-17 | |
| Pachygyria | nervous | 29 % | 22522420 | 2024-05-17 | |
| Optic nerve atrophy | nervous | 29 % | 22522420 | 2024-05-17 | |
| Muscle atrophy | skeletal | 29 % | 22522420 | 2024-05-17 | |
| Abnormal cornea | nervous | 14 % | 22522420 | 2024-05-17 | |
| Retinal dysplasias | nervous | 14 % | 22522420 | 2024-05-17 | |
| Thinning of cerebral gray matter | nervous | 14 % | 22522420 | 2024-05-17 | |
| Macular degeneration | nervous | 14 % | 22522420 | 2024-05-17 | |
| Brainstem atrophy | nervous | 14 % | 22522420 | 2024-05-17 |
List of references:
ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome.
Tobias Willer, Hane Lee, Mark Lommel, Takako Yoshida-Moriguchi, Daniel Beltran Valero de Bernabe, David Venzke, Sebahattin Cirak, Harry Schachter, Jiri Vajsar, Thomas Voit, Francesco Muntoni, Andrea S Loder, William B Dobyns, Thomas L Winder, Sabine Strahl, Katherine D Mathews, Stanley F Nelson, Steven A Moore, Kevin P Campbell,
Nature genetics - May 2012