Spinocerebellar Ataxia Autosomal Recessive 25

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Prevalence (%) of clinical parameters based on data from 1 references describing 2 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
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