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

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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%)
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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