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Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies), Type A, 3
MDDGA3

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Prevalence (%) of clinical parameters based on data from 1 references describing 3 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
Glaucoma nervous 100 % 17030669 2024-05-06
Cerebellum hypoplasia nervous 100 % 17030669 2024-05-06
Hypotonia nervous 100 % 17030669 2024-05-06
Visual impairment nervous 100 % 17030669 2024-05-06
Hypoplastic pons nervous 100 % 17030669 2024-05-06
Frontocortical dysplasia nervous 100 % 17030669 2024-05-06
Cerebellar cysts nervous 67 % 17030669 2024-05-06
Seizures nervous 33 % 17030669 2024-05-02
non-walking multi 33 % 17030669 2024-05-02
White matter hyperintensities nervous 33 % 17030669 2024-05-06
Cataract nervous 33 % 17030669 2024-05-06
Megalocornea nervous 33 % 17030669 2024-05-06
Gait disturbances multi 33 % 17030669 2024-05-06
Myopia nervous 33 % 17030669 2024-05-06



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