Epilepsy, Progressive Myoclonic 3

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Prevalence (%) of clinical parameters based on data from 1 references describing 6 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
Seizures nervous 100 % 22748208 2014-04-02
Developmental delay nervous 100 % 22748208 2014-04-02
Visual acuity decrease nervous 67 % 22748208 2014-04-02
Cerebral atrophy nervous 67 % 22748208 2014-04-02
Optic atrophy nervous 33 % 22748208 2014-04-02
Ataxia nervous 17 % 22748208 2014-04-02
Microcephaly nervous 17 % 22748208 2014-04-02

List of references:

A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system.
John F Staropoli, Amel Karaa, Elaine T Lim, Andrew Kirby, Naser Elbalalesy, Stephen G Romansky, Karen B Leydiker, Scott H Coppel, Rosemary Barone, Winnie Xin, Marcy E MacDonald, Jose E Abdenur, Mark J Daly, Katherine B Sims, Susan L Cotman,

American journal of human genetics - Jul 2012