Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies), Type A,2
MDDGA2

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Prevalence (%) of clinical parameters based on data from 1 references describing 6 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 % 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
Increased blood CK circulatory 83 % 19138766 2024-06-14
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