Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies), Type A, 10 |
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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 |
| Mental retardation | nervous | 100 % | 23217329 | 2024-05-13 | |
| Cobblestone lissencephaly | nervous | 100 % | 23217329 | 2024-05-13 | |
| Cerebellar dysplasia | nervous | 100 % | 23217329 | 2024-05-13 | |
| Retinal dysplasias | nervous | 86 % | 23217329 | 2024-05-13 | |
| Neural tube defect | nervous | 71 % | 23217329 | 2024-05-13 | |
| Visceral malformations | digestive | 71 % | 23217329 | 2024-05-13 | |
| Gonadal dysgenesis | reproductive | 71 % | 23217329 | 2024-05-13 | |
| Limb deformations | multi | 14 % | 23217329 | 2024-05-13 |
List of references:
Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly.
Sandrine Vuillaumier-Barrot, Céline Bouchet-Séraphin, Malika Chelbi, Louise Devisme, Samuel Quentin, Steven Gazal, Annie Laquerrière, Catherine Fallet-Bianco, Philippe Loget, Sylvie Odent, Dominique Carles, Anne Bazin, Jacqueline Aziza, Alix Clemenson, Fabien Guimiot, Maryse Bonnière, Sophie Monnot, Christine Bole-Feysot, Jean-Pierre Bernard, Laurence Loeuillet, Marie Gonzales, Koryna Socha, Bernard Grandchamp, Tania Attié-Bitach, Férechté Encha-Razavi, Nathalie Seta,
American journal of human genetics - Dec 2012