α-Mannosidosis |
1 |
0 |
0 |
0 |
Congenital disorders of glycosylation (CDG) |
0 |
3 |
0 |
1 |
Biotinidase deficiency |
2 |
0 |
2 |
0 |
Lysosomal acid lipase deficiency / Wolman |
1 |
1 |
0 |
1 |
Fabry disease |
4 |
0 |
2 |
0 |
Classic Galactosemia |
2 |
0 |
1 |
1 |
GM1 gangliosidosis / Galactosialidosis / MPS IVB |
0 |
7 |
0 |
5 |
GM1 gangliosidosis / Galactosialidosis |
0 |
3 |
0 |
4 |
GM1 gangliosidosis |
0 |
0 |
4 |
0 |
Galactosialidosis / MPS IVB |
0 |
1 |
0 |
0 |
Galactosialidosis |
1 |
0 |
0 |
0 |
Gaucher disease |
18 |
2 |
10 |
2 |
Krabbe disease |
8 |
1 |
5 |
0 |
Neuronal ceroid lipofuscinosis (CLN1) |
4 |
0 |
1 |
0 |
Neuronal ceroid lipofuscinosis (CLN2) |
5 |
6 |
10 |
14 |
Mucolipidosis I/II |
0 |
8 |
0 |
2 |
Metachromatic leukodystrophy |
7 |
0 |
3 |
0 |
Metachromatic leukodystrophy / Pseudo Arylsulfatase A deficiency |
0 |
4 |
0 |
0 |
Metachromatic leukodystrophy / Multiple sulfatase deficiency |
0 |
3 |
0 |
1 |
Mucopolysaccharidosis Types I,II,VII |
0 |
3 |
0 |
1 |
Mucopolysaccharidosis Type I |
8 |
2 |
3 |
1 |
Mucopolysaccharidosis Type II |
27 |
9 |
8 |
1 |
Mucopolysaccharidosis Type IIIA |
5 |
0 |
3 |
0 |
Mucopolysaccharidosis Type IIIB |
7 |
10 |
3 |
0 |
Mucopolysaccharidosis Type IIIC |
5 |
4 |
0 |
2 |
Mucopolysaccharidosis Type IIID |
0 |
0 |
1 |
0 |
Mucopolysaccharidosis Type IVA |
12 |
18 |
9 |
11 |
Mucopolysaccharidosis Type IVB |
0 |
0 |
0 |
0 |
Mucopolysaccharidosis Type VI |
11 |
2 |
17 |
4 |
Mucopolysaccharidosis Type VII |
2 |
0 |
0 |
0 |
Niemann-Pick A disease |
2 |
0 |
3 |
0 |
Niemann-Pick B disease |
2 |
0 |
2 |
0 |
Niemann-Pick A and B disease |
1 |
0 |
0 |
1 |
Pompe disease |
6 |
0 |
0 |
1 |
Porphyria |
0 |
1 |
0 |
0 |
Sandhoff |
1 |
1 |
0 |
0 |
Sialidosis |
1 |
0 |
0 |
0 |
Smith Lemli Optiz Syndrome |
1 |
0 |
3 |
0 |
Tay-Sachs |
0 |
1 |
4 |
2 |
Tay-Sachs B1 |
3 |
1 |
3 |
3 |
Type I Tyrosinemia |
4 |
0 |
2 |
1 |
Total
|
151
|
91
|
99
|
59
|