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Prevalence (%) of clinical parameters based on data from 2 references describing 72 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 |
| Optic atrophy | nervous | 100 % | 7510656 | 2013-11-14 | |
| 3-methylglutaconic aciduria | urinary | 100 % | 7510656 | 2013-11-14 | |
| 3-methylglutaric aciduria | urinary | 100 % | 7510656 | 2013-11-14 | |
| Visual impairment | nervous | 94 % | 20301646 | 2013-11-14 | |
| Extrapyramidal symptoms | nervous | 89 % | 7510656 | 2013-11-14 | |
| Chorea | nervous | 89 % | 20301646 | 2013-11-14 | |
| Spasticity | nervous | 75 % | 7510656 | 2013-11-14 | |
| Ataxia | nervous | 50 % | 7510656 | 2013-11-14 | |
| Dysarthria | nervous | 50 % | 7510656 | 2013-11-14 | |
| Cognitive deficits | nervous | 50 % | 7510656 | 2013-11-14 | |
| Mental retardation | nervous | 50 % | 7510656 | 2013-11-14 | |
| Short stature | skeletal | 25 % | 7510656 | 2013-11-14 |
List of references:
3-Methylglutaconic aciduria in the Iraqi-Jewish 'optic atrophy plus' (Costeff) syndrome.
O N Elpeleg, H Costeff, A Joseph, Y Shental, R Weitz, K M Gibson,
Developmental medicine and child neurology - Feb 1994
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