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Prevalence (%) of clinical parameters based on data from 1 references describing 5 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 |
| Psychomotor regression | nervous | 100 % | 23435086 | 2019-02-09 | |
| Dystonia | nervous | 100 % | 23435086 | 2019-02-09 | |
| Rigidity | nervous | 100 % | 23435086 | 2019-02-09 | |
| Cerebellar atrophy | nervous | 100 % | 23435086 | 2019-02-09 | |
| Cerebral atrophy | nervous | 100 % | 23435086 | 2019-02-09 | |
| Brain iron accumulation | nervous | 100 % | 23435086 | 2019-02-09 | |
| Dysphagia | nervous | 100 % | 23435086 | 2019-02-09 | |
| Seizures | nervous | 60 % | 23435086 | 2019-02-09 | |
| Akinesia | nervous | 40 % | 23435086 | 2019-02-09 | |
| Contracture | nervous | 40 % | 23435086 | 2019-02-09 | |
| Tremor | nervous | 20 % | 23435086 | 2019-02-09 | |
| Hypotonia | nervous | 20 % | 23435086 | 2019-02-09 |
List of references:
De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood.
Hirotomo Saitsu, Taki Nishimura, Kazuhiro Muramatsu, Hirofumi Kodera, Satoko Kumada, Kenji Sugai, Emi Kasai-Yoshida, Noriko Sawaura, Hiroya Nishida, Ai Hoshino, Fukiko Ryujin, Seiichiro Yoshioka, Kiyomi Nishiyama, Yukiko Kondo, Yoshinori Tsurusaki, Mitsuko Nakashima, Noriko Miyake, Hirokazu Arakawa, Mitsuhiro Kato, Noboru Mizushima, Naomichi Matsumoto,
Nature genetics - Apr 2013