1 |
Female |
42 |
17 |
Female |
Alexander disease |
2 |
Female |
52 |
15 |
Female |
Sialic acid storage disease |
22 |
Female |
Sialic acid storage disease |
3 |
Female |
38 |
5 |
Male |
Aicardi-Goutières syndrome |
4 |
Male |
39 |
5 |
Male |
56 |
23 |
Female |
Aicardi-Goutières syndrome |
6 |
Female |
54 |
7 |
Female |
38 |
6 |
Male |
X-linked adrenoleukodystrophy |
8 |
Female |
44 |
9 |
Female |
Cockayne syndrome |
9 |
Female |
37 |
3 |
Male |
X-linked adrenoleukodystrophy |
10 |
Male |
42 |
6 |
Female |
Leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL) |
11 |
Male |
45 |
13 |
Male |
Allan-Herndon-Dudley syndrome |
12 |
Female |
38 |
13 |
Male |
Peroxisome biogenesis disorder / Zellweger spectrum disorder–PEX16 |
7 |
Female |
Peroxisome biogenesis disorder / Zellweger spectrum disorder–PEX16 |
13 |
Female |
36 |
7 |
Male |
Undiagnosed genetically determined leukoencephalopathy |