1
|
(HPO:0000256)
|
Macrocephaly |
Frequent [HPO:probinson]
|
|
|
|
298 / 7739
|
2
|
(HPO:0000618)
|
Blindness |
Occasional [HPO:probinson]
|
|
|
|
124 / 7739
|
3
|
(HPO:0000648)
|
Optic atrophy |
|
|
|
|
238 / 7739
|
4
|
(HPO:0000712)
|
Emotional lability |
|
|
|
|
44 / 7739
|
5
|
(HPO:0000746)
|
Delusions |
|
|
|
|
21 / 7739
|
6
|
(HPO:0000751)
|
Personality changes |
|
|
|
|
33 / 7739
|
7
|
(HPO:0000869)
|
Secondary amenorrhea |
|
|
|
|
42 / 7739
|
8
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
9
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
10
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
11
|
(HPO:0001254)
|
Lethargy |
|
|
|
|
104 / 7739
|
12
|
(HPO:0001257)
|
Spasticity |
|
|
|
|
251 / 7739
|
13
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
14
|
(HPO:0002317)
|
Unsteady gait |
|
|
|
|
45 / 7739
|
15
|
(HPO:0002352)
|
Leukoencephalopathy |
|
|
|
|
32 / 7739
|
16
|
(HPO:0002354)
|
Memory impairment |
|
|
|
|
63 / 7739
|
17
|
(HPO:0002376)
|
Developmental regression |
|
|
|
|
74 / 7739
|
18
|
(HPO:0004485)
|
Cessation of head growth |
|
|
|
|
1 / 7739
|
19
|
(HPO:0006808)
|
Cerebral hypomyelination |
|
|
|
|
16 / 7739
|
20
|
(HPO:0007305)
|
CNS demyelination |
|
|
|
|
21 / 7739
|
21
|
(HPO:0008193)
|
Primary gonadal insufficiency |
|
|
|
|
7 / 7739
|
22
|
(HPO:0008209)
|
Premature ovarian failure |
|
|
|
|
28 / 7739
|
23
|
(HPO:0008233)
|
Decreased serum progesterone |
|
|
|
|
7 / 7739
|
24
|
(OMIM)
|
Cessation of head growth in affected infants |
|
|
|
|
6 / 7739
|
25
|
(OMIM)
|
Macrocephaly may develop in those who survive past age 2 years |
|
|
|
|
6 / 7739
|
26
|
(OMIM)
|
Blindness may occur in affected infants |
|
|
|
|
6 / 7739
|
27
|
(OMIM)
|
Ovarian failure, in a subset of affected patients (ovarioleukodystrophy) |
|
|
|
|
6 / 7739
|
28
|
(OMIM)
|
Deterioration of motor development |
|
|
|
|
6 / 7739
|
29
|
(OMIM)
|
Loss of coordination |
|
|
|
|
6 / 7739
|
30
|
(OMIM)
|
Chronic-progressive course with episodes of rapid deterioration following fever or head trauma |
|
|
|
|
6 / 7739
|
31
|
(OMIM)
|
Rapid, instantaneous neurologic decline may occur after fright |
|
|
|
|
6 / 7739
|
32
|
(OMIM)
|
Developmental regression in affected children |
|
|
|
|
6 / 7739
|
33
|
(HPO:0001288)
|
Gait disturbance |
|
|
|
|
318 / 7739
|
34
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
35
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
36
|
(OMIM)
|
Mild mental decline |
|
|
|
|
6 / 7739
|
37
|
(HPO:0100543)
|
Cognitive impairment |
|
|
|
|
230 / 7739
|
38
|
(OMIM)
|
Leukoencephalopathy, severe |
|
|
|
|
6 / 7739
|
39
|
(OMIM)
|
Cavitating leukoencephalopathy |
|
|
|
|
7 / 7739
|
40
|
(OMIM)
|
Cystic degeneration of cerebral white matter with preserved cortex |
|
|
|
|
6 / 7739
|
41
|
(OMIM)
|
Over time, white matter vanishes and is replaced by CSF |
|
|
|
|
6 / 7739
|
42
|
(OMIM)
|
MRI shows symmetric, diffuse lesions with CSF-like signal intensity |
|
|
|
|
6 / 7739
|
43
|
(OMIM)
|
Biopsy shows white matter hypomyelination, demyelination, gliosis |
|
|
|
|
6 / 7739
|
44
|
(OMIM)
|
Biopsy shows foamy lipid-laden macrophages |
|
|
|
|
6 / 7739
|
45
|
(OMIM)
|
White matter rarefaction and cystic degeneration |
|
|
|
|
6 / 7739
|
46
|
(OMIM)
|
Decreased amount of myelin-specific proteins |
|
|
|
|
6 / 7739
|
47
|
(OMIM)
|
Decreased amount of myelin-specific lipids |
|
|
|
|
6 / 7739
|
48
|
(OMIM)
|
Magnetic resonance spectroscopy (MRS) shows decreased N-acetylaspartic acid in unaffected white matter |
|
|
|
|
6 / 7739
|
49
|
(OMIM)
|
MRS shows decreased choline in affected white matter |
|
|
|
|
6 / 7739
|
50
|
(OMIM)
|
MRS shows decreased creatine in white matter |
|
|
|
|
6 / 7739
|
51
|
(HPO:0000741)
|
Apathy |
|
|
|
|
42 / 7739
|
52
|
(OMIM)
|
Psychiatric manifestations more common with adult-onset of disease |
|
|
|
|
6 / 7739
|
53
|
(OMIM)
|
Subset of patients with ovarioleukodystrophy have primary amenorrhea |
|
|
|
|
6 / 7739
|
54
|
(OMIM)
|
Increased serum gonadotropins |
|
|
|
|
6 / 7739
|
55
|
(OMIM)
|
Decreased serum estrogen |
|
|
|
|
6 / 7739
|
56
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
57
|
(HPO:0003621)
|
Juvenile onset |
Frequent [HPO:probinson]
|
|
|
|
105 / 7739
|