Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies), Type A, 4

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Prevalence (%) of clinical parameters based on data from 1 references describing 13 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
Speech delay nervous 100 % 20620061 2024-04-30
Muscle weakness skeletal 100 % 20620061 2024-04-30
non-walking nervous 92 % 20620061 2024-04-30
Neck weakness skeletal 46 % 20620061 2024-04-30
Seizures nervous 31 % 20620061 2024-04-30

List of references:

Fukutin mutations in congenital muscular dystrophies with defective glycosylation of dystroglycan in Korea.
Bung Chan Lim, Chang-Seok Ki, Jong-Won Kim, Anna Cho, Min Jung Kim, Hee Hwang, Ki Joong Kim, Yong Seung Hwang, Woong Yang Park, Yun-Jung Lim, In One Kim, Jun Su Lee, Jong Hee Chae,

Neuromuscular disorders : NMD - Aug 2010