Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies), Type A, 3 |
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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 |
| Glaucoma | nervous | 100 % | 17030669 | 2024-05-06 | |
| Cerebellum hypoplasia | nervous | 100 % | 17030669 | 2024-05-06 | |
| Hypotonia | nervous | 100 % | 17030669 | 2024-05-06 | |
| Visual impairment | nervous | 100 % | 17030669 | 2024-05-06 | |
| Hypoplastic pons | nervous | 100 % | 17030669 | 2024-05-06 | |
| Frontocortical dysplasia | nervous | 100 % | 17030669 | 2024-05-06 | |
| Cerebellar cysts | nervous | 67 % | 17030669 | 2024-05-06 | |
| Seizures | nervous | 33 % | 17030669 | 2024-05-02 | |
| non-walking | multi | 33 % | 17030669 | 2024-05-02 | |
| White matter hyperintensities | nervous | 33 % | 17030669 | 2024-05-06 | |
| Cataract | nervous | 33 % | 17030669 | 2024-05-06 | |
| Megalocornea | nervous | 33 % | 17030669 | 2024-05-06 | |
| Gait disturbances | multi | 33 % | 17030669 | 2024-05-06 | |
| Myopia | nervous | 33 % | 17030669 | 2024-05-06 |
List of references:
POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum.
Roberta Biancheri, Enrico Bertini, Antonio Falace, Marina Pedemonte, Andrea Rossi, Adele D'Amico, Sara Scapolan, Laura Bergamino, Stefania Petrini, Denise Cassandrini, Paolo Broda, Mario Manfredi, Federico Zara, Filippo M Santorelli, Carlo Minetti, Claudio Bruno,
Archives of neurology - Oct 2006