Muscular Dystrophy-Dystroglycanopathy(Congenital with Brain and Eye Anomalies), Type A, 13 |
Contact us |
| Return to database |
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 |
| Ventricular enlargement brain | nervous | 100 % | 34587870 | 2024-04-30 | |
| Lissencephaly | nervous | 67 % | 34587870 | 2024-04-30 | |
| Seizures | nervous | 33 % | 34587870 | 2024-04-30 | |
| Corpus callosum agenesis | nervous | 33 % | 34587870 | 2024-04-30 | |
| Absent pyramidal tract | nervous | 33 % | 34587870 | 2024-04-30 | |
| Vermis hypoplasia | nervous | 33 % | 34587870 | 2024-04-30 | |
| Occipital encephalocele | nervous | 33 % | 34587870 | 2024-04-30 | |
| Anencephaly | nervous | 33 % | 34587870 | 2024-04-30 | |
| Hydrocephalus | nervous | 33 % | 34587870 | 2024-04-30 | |
| Cerebellar atrophy | nervous | 33 % | 34587870 | 2024-04-30 | |
| Brainstem atrophy | nervous | 33 % | 34587870 | 2024-04-30 | |
| Neuroepithelial heterotopias | nervous | 33 % | 34587870 | 2024-04-30 | |
| Cryptorchidism | reproductive | 33 % | 34587870 | 2024-04-30 | |
| Micropenis | reproductive | 33 % | 34587870 | 2024-04-30 | |
| Blindness | nervous | 33 % | 34587870 | 2024-04-30 | |
| Visual impairment | nervous | 33 % | 34587870 | 2024-04-30 | |
| Retinal dysplasias | nervous | 33 % | 34587870 | 2024-04-30 | |
| Cataract | nervous | 33 % | 34587870 | 2024-04-30 | |
| Proptosis | nervous | 33 % | 34587870 | 2024-04-30 | |
| Optic nerve atrophy | nervous | 33 % | 34587870 | 2024-04-30 | |
| Hydronephrosis | urinary | 33 % | 34587870 | 2024-04-30 | |
| Kidney cysts | urinary | 33 % | 34587870 | 2024-04-30 | |
| Elevated creatine kinase (CK) levels | circulatory | 33 % | 34587870 | 2024-04-30 |
List of references:
Gene Associated Congenital Muscular Dystrophy Presenting with Recurrent Severe Ventriculomegaly: Case Report and Review of Literature.
Meenakshi Lallar, Ladbans Kaur, Meetan Preet, U P Singh,
Fetal and pediatric pathology - Oct 2022