Muscular Dystrophy-Dystroglycanopathy (Congenital with Mental Retardation), Type B, 6 |
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Prevalence (%) of clinical parameters based on data from 1 references describing 2 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 |
| Equinovarus foot position | skeletal | 100 % | 21248746 | 2024-05-28 | |
| Toe walking | multi | 100 % | 21248746 | 2024-05-28 | |
| Increased blood CK | circulatory | 100 % | 21248746 | 2024-05-28 | |
| White matter hyperintensities | nervous | 100 % | 21248746 | 2024-05-28 | |
| Pachygyria | nervous | 100 % | 21248746 | 2024-05-28 | |
| Frontocortical dysplasia | nervous | 100 % | 21248746 | 2024-05-28 | |
| Ventricular enlargement brain | nervous | 100 % | 21248746 | 2024-05-28 | |
| Hypoplastic pons | nervous | 100 % | 21248746 | 2024-05-28 | |
| Cerebral atrophy | nervous | 100 % | 21248746 | 2024-05-28 | |
| Cerebellar cysts | nervous | 100 % | 21248746 | 2024-05-28 | |
| Cerebellar atrophy | nervous | 100 % | 21248746 | 2024-05-28 | |
| Myopia | nervous | 100 % | 21248746 | 2024-05-28 | |
| Gait disturbances | skeletal | 100 % | 21248746 | 2024-05-28 | |
| Tongue hypertrophy | skeletal | 100 % | 21248746 | 2024-05-28 | |
| Facial weakness | nervous | 100 % | 21248746 | 2024-05-28 | |
| Calf hypertrophy | skeletal | 100 % | 21248746 | 2024-05-28 | |
| Muscle hypertrophy | skeletal | 100 % | 21248746 | 2024-05-28 | |
| Developmental delay | nervous | 100 % | 21248746 | 2024-05-28 | |
| Hypotonia | nervous | 100 % | 21248746 | 2024-05-28 | |
| Strabismus | nervous | 50 % | 21248746 | 2024-05-28 | |
| Dystrophic muscle biopsy with reduced α-DG | skeletal | 50 % | 21248746 | 2024-05-28 | |
| Myopathy | skeletal | 50 % | 21248746 | 2024-05-28 |
List of references:
Congenital muscular dystrophy type 1D (MDC1D) due to a large intragenic insertion/deletion, involving intron 10 of the LARGE gene.
Nigel F Clarke, Svetlana Maugenre, Aurélie Vandebrouck, J Andoni Urtizberea, Tobias Willer, Rachel A Peat, Françoise Gray, Céline Bouchet, Hiroshi Manya, Sandrine Vuillaumier-Barrot, Tamao Endo, Eliane Chouery, Kevin P Campbell, André Mégarbané, Pascale Guicheney,
European journal of human genetics : EJHG - Apr 2011