Syndrome | Inheritance | Mutation | Patho | Presentation |
Metachromatic Leukodystrophy (ARSA) | AR | Arylsulfatase | ㅤ | DD, school performance |
Tay-Sachs Disease (HexA) | ㅤ | Hexosaminidase A | ㅤ | ㅤ |
Niemann-Pick Disease (Sphing) | ㅤ | Sphingomyelinase | ㅤ | ㅤ |
Krabbe leukodystrophy | AR | GALC | myelin loss | seizures, motor deteroriation, death |
Gaucher Disease | ㅤ | Glucocerebrosidase | ㅤ | ㅤ |
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