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Prevalence (%) of clinical parameters based on data from 1 references describing 9 individuals
Add new symptom/sign to this disease
List of symptoms
Symptom/sign |
Organ system |
Percent affected |
Pubmed id |
Added on(yyyy-mm-dd) |
Edit/add reference |
Seizures |
nervous |
100 % |
22245569 |
2018-03-07 |
|
Psychomotor regression |
nervous |
100 % |
22245569 |
2018-03-07 |
|
Cerebral atrophy |
nervous |
100 % |
22245569 |
2018-03-07 |
|
Cerebellar atrophy |
nervous |
100 % |
22245569 |
2018-03-07 |
|
Lymphocytic vacuoles |
circulatory |
83 % |
22245569 |
2018-03-07 |
|
Curvilinear bodies |
multi |
83 % |
22245569 |
2018-03-07 |
|
Ataxia |
nervous |
78 % |
22245569 |
2018-03-07 |
|
Visual impairment |
nervous |
56 % |
22245569 |
2018-03-07 |
|
Periventricular leukomalacia |
nervous |
33 % |
22245569 |
2018-03-07 |
|
Retinitis pigmentosa |
nervous |
22 % |
22245569 |
2018-03-07 |
|
Optic atrophy |
nervous |
22 % |
22245569 |
2018-03-07 |
|
List of references:
Clinical study in Chinese patients with late-infantile form neuronal ceroid lipofuscinoses. Xingzhi Chang, Yu Huang, Hongdi Meng, Yuwu Jiang, Ye Wu, Hui Xiong, Shuang Wang, Jiong Qin,
Brain & development - Oct 2012
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