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Prevalence (%) of clinical parameters based on data from 1 references describing 9 individuals
Add new symptom/sign to this disease
| 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%) | ||
| Please provide your name and contact information as a reference | |||
| Name | Institute | Phone number | Email address |
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