Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies), Type A,2 |
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Prevalence (%) of clinical parameters based on data from 1 references describing 6 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 |
| Mental retardation | nervous | 100 % | 19138766 | 2024-05-01 | |
| Hypotonia | nervous | 100 % | 19138766 | 2024-05-01 | |
| non-walking | nervous | 100 % | 19138766 | 2024-05-01 | |
| Myopathy | nervous | 100 % | 19138766 | 2024-05-01 | |
| Muscle hypertrophy | skeletal | 83 % | 19138766 | 2024-05-01 | |
| Elevated creatine kinase (CK) levels | skeletal | 83 % | 19138766 | 2024-05-01 | |
| Cerebellar atrophy | nervous | 50 % | 19138766 | 2024-05-01 | |
| Cerebral atrophy | nervous | 50 % | 19138766 | 2024-05-01 | |
| Microcephaly | nervous | 33 % | 19138766 | 2024-05-01 | |
| Leukodystrophy | nervous | 33 % | 19138766 | 2024-05-01 | |
| Visual impairment | nervous | 33 % | 19138766 | 2024-05-01 | |
| Seizures | nervous | 17 % | 19138766 | 2024-05-01 | |
| Cleft lip or palate | integumentary | 17 % | 19138766 | 2024-05-01 |
List of references:
POMT2 intragenic deletions and splicing abnormalities causing congenital muscular dystrophy with mental retardation.
Akiko Yanagisawa, Céline Bouchet, Susana Quijano-Roy, Sandrine Vuillaumier-Barrot, Nigel Clarke, Sylvie Odent, Diana Rodriguez, Norma B Romero, Makiko Osawa, Tamao Endo, Ana Lia Taratuto, Nathalie Seta, Pascale Guicheney,
European journal of medical genetics - 2009