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3-Methylglutaconic aciduria type 3
MGCA3

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Prevalence (%) of clinical parameters based on data from 2 references describing 72 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
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 acuity decrease 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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