Symptom Information: Sort according to HPO 

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