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Symptoms:

    


DiseasesRatingBibliogr.Expand
1Urea Cycle Disorders, Inborn100+ 
2Homocystinuria51+ 
3Lysosomal Storage Diseases, Nervous System33+ 
4Lesch-Nyhan Syndrome29+ 
5Hyperglycinemia, Nonketotic22+ 
6Phenylketonurias18+ 
7Tyrosinemias18+ 
8Maple Syrup Urine Disease17+ 
9Menkes Kinky Hair Syndrome11+ 
10Hepatolenticular Degeneration7+ 
11Peroxisomal Disorders7+ 
12Galactosemias4+ 
13Hereditary Central Nervous System Demyelinating Diseases4+ 
14MELAS Syndrome3+ 
15Leigh Disease2+ 
16Pyruvate Dehydrogenase Complex Deficiency Disease2+ 
17Oculocerebrorenal Syndrome1+ 

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