Muscular Dystrophy-Dystroglycanopathy (Congenital With Mental Retardation), Type B, 1 |
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Prevalence (%) of clinical parameters based on data from 1 references describing 5 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 |
| Calf hypertrophy | skeletal | 100 % | 16575835 | 2024-05-09 | |
| Elevated creatine kinase (CK) levels | circulatory | 100 % | 16575835 | 2024-05-09 | |
| Microcephaly | nervous | 100 % | 16575835 | 2024-05-09 | |
| non-walking | multi | 100 % | 16575835 | 2024-05-09 | |
| Mental retardation | nervous | 100 % | 16575835 | 2024-05-09 | |
| Cerebellum hypoplasia | nervous | 100 % | 16575835 | 2024-05-09 | |
| Cortical dysgenesis | nervous | 60 % | 16575835 | 2024-05-09 | |
| Myopia | nervous | 60 % | 16575835 | 2024-05-09 | |
| Hydrocephalus | nervous | 60 % | 16575835 | 2024-05-09 | |
| Fusion of hemispheres | nervous | 20 % | 16575835 | 2024-05-09 | |
| Corpus callosum thining | nervous | 20 % | 16575835 | 2024-05-09 | |
| Septum pellucidum defect | nervous | 20 % | 16575835 | 2024-05-09 |
List of references:
The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation.
Jeroen van Reeuwijk, Svetlana Maugenre, Christa van den Elzen, Aad Verrips, Enrico Bertini, Francesco Muntoni, Luciano Merlini, Hans Scheffer, Han G Brunner, Pascale Guicheney, Hans van Bokhoven,
Human mutation - May 2006