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Prevalence (%) of clinical parameters based on data from 1 references describing 6 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 % | 22748208 | 2014-04-02 | |
| Developmental delay | nervous | 100 % | 22748208 | 2014-04-02 | |
| Visual impairment | 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