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Prevalence (%) of clinical parameters based on data from 1 references describing 2 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 |
| Developmental delay | nervous | 100 % | 26812546 | 2019-12-10 | |
| Ataxia | nervous | 100 % | 26812546 | 2019-12-10 | |
| Dysmetria | nervous | 100 % | 26812546 | 2019-12-10 | |
| Nystagmus | nervous | 100 % | 26812546 | 2019-12-10 | |
| Mental retardation | nervous | 100 % | 26812546 | 2019-12-10 | |
| Cerebellar atrophy | nervous | 100 % | 26812546 | 2019-12-10 |
List of references:
Mutation in ATG5 reduces autophagy and leads to ataxia with developmental delay.
Myungjin Kim, Erin Sandford, Damian Gatica, Yu Qiu, Xu Liu, Yumei Zheng, Brenda A Schulman, Jishu Xu, Ian Semple, Seung-Hyun Ro, Boyoung Kim, R Nehir Mavioglu, Aslıhan Tolun, Andras Jipa, Szabolcs Takats, Manuela Karpati, Jun Z Li, Zuhal Yapici, Gabor Juhasz, Jun Hee Lee, Daniel J Klionsky, Margit Burmeister,
eLife - Jan 2016