Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies), Type A, 11 |
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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 |
| Hypotonia | nervous | 100 % | 23453667 | 2024-05-09 | |
| Mental retardation | nervous | 86 % | 23453667 | 2024-05-09 | |
| Lissencephaly | nervous | 71 % | 23453667 | 2024-05-09 | |
| Hydrocephalus | nervous | 71 % | 23453667 | 2024-05-09 | |
| Seizures | nervous | 71 % | 23453667 | 2024-05-09 | |
| White matter atrophy | nervous | 43 % | 23453667 | 2024-05-09 | |
| Microphthalmia | nervous | 29 % | 23453667 | 2024-05-09 | |
| Cerebellar atrophy | nervous | 29 % | 23453667 | 2024-05-09 | |
| Optic nerve atrophy | nervous | 29 % | 23453667 | 2024-05-09 | |
| Cerebellar cysts | nervous | 29 % | 23453667 | 2024-05-09 | |
| Hypomyelination | nervous | 14 % | 23453667 | 2024-05-09 | |
| Blindness | nervous | 14 % | 23453667 | 2024-05-09 | |
| Cataract | nervous | 14 % | 23453667 | 2024-05-09 | |
| Brainstem hypoplasia | nervous | 14 % | 23453667 | 2024-05-09 | |
| Hypoplastic pons | nervous | 14 % | 23453667 | 2024-05-09 | |
| Glaucoma | nervous | 14 % | 23453667 | 2024-05-09 |
List of references:
Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan.
Elizabeth Stevens, Keren J Carss, Sebahattin Cirak, A Reghan Foley, Silvia Torelli, Tobias Willer, Dimira E Tambunan, Shu Yau, Lina Brodd, Caroline A Sewry, Lucy Feng, Goknur Haliloglu, Diclehan Orhan, William B Dobyns, Gregory M Enns, Melanie Manning, Amanda Krause, Mustafa A Salih, Christopher A Walsh, Matthew Hurles, Kevin P Campbell, M Chiara Manzini, , Derek Stemple, Yung-Yao Lin, Francesco Muntoni,
American journal of human genetics - Mar 2013