Symptom Information: Sort according to HPO 

1
 (HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
2
 (HPO:0010622) Neoplasm of the skeletal system Very frequent [Orphanet] 30 / 7739
3
 (HPO:0002488) Acute leukemia Occasional [Orphanet] 29 / 7739
4
 (HPO:0000716) Depression 99 / 7739
5
 (HPO:0000737) Irritability 93 / 7739
6
 (HPO:0000739) Anxiety 67 / 7739
7
 (HPO:0000741) Apathy 42 / 7739
8
 (HPO:0000238) Hydrocephalus Occasional [Orphanet] 278 / 7739
9
 (HPO:0001257) Spasticity 251 / 7739
10
 (HPO:0001276) Hypertonia Frequent [Orphanet] 317 / 7739
11
 (HPO:0005059) Arthralgia/arthritis Very frequent [Orphanet] 141 / 7739
12
 (HPO:0000708) Behavioral abnormality Very frequent [Orphanet] 212 / 7739
13
 (HPO:0002120) Cerebral cortical atrophy Very frequent [Orphanet] 187 / 7739
14
 (HPO:0002653) Bone pain Very frequent [Orphanet] 75 / 7739
15
 (HPO:0002652) Skeletal dysplasia Very frequent [Orphanet] 113 / 7739
16
 (HPO:0002354) Memory impairment Very frequent [Orphanet] 63 / 7739
17
 (HPO:0005930) Abnormality of epiphysis morphology Very frequent [Orphanet] 119 / 7739
18
 (HPO:0000657) Oculomotor apraxia Frequent [Orphanet] 54 / 7739
19
 (HPO:0001250) Seizures Frequent [Orphanet] 1245 / 7739
20
 (HPO:0012062) Bone cyst Very frequent [Orphanet] 19 / 7739
21
 (HPO:0009125) Lipodystrophy Very frequent [Orphanet] 54 / 7739
22
 (HPO:0002514) Cerebral calcification Frequent [Orphanet] 89 / 7739
23
 (HPO:0100022) Abnormality of movement Frequent [Orphanet] 129 / 7739
24
 (HPO:0002119) Ventriculomegaly Very frequent [Orphanet] 253 / 7739
25
 (HPO:0000020) Urinary incontinence 75 / 7739
26
 (HPO:0000718) Aggressive behavior 109 / 7739
27
 (HPO:0000727) Frontal lobe dementia 6 / 7739
28
 (HPO:0000734) Disinhibition 13 / 7739
29
 (HPO:0000751) Personality changes 33 / 7739
30
 (HPO:0000757) Lack of insight 3 / 7739
31
 (HPO:0001155) Abnormality of the hand 54 / 7739
32
 (HPO:0001288) Gait disturbance 318 / 7739
33
 (HPO:0001336) Myoclonus 115 / 7739
34
 (HPO:0001760) Abnormality of the foot 96 / 7739
35
 (HPO:0002059) Cerebral atrophy 171 / 7739
36
 (HPO:0002079) Hypoplasia of the corpus callosum 161 / 7739
37
 (HPO:0002127) Abnormal upper motor neuron morphology 15 / 7739
38
 (HPO:0002135) Basal ganglia calcification 37 / 7739
39
 (HPO:0002167) Neurological speech impairment Frequent [Orphanet] 308 / 7739
40
 (HPO:0002171) Gliosis 48 / 7739
41
 (HPO:0002186) Apraxia 22 / 7739
42
 (HPO:0002340) Caudate atrophy 4 / 7739
43
 (HPO:0002352) Leukoencephalopathy 32 / 7739
44
 (HPO:0002353) EEG abnormality 188 / 7739
45
 (HPO:0002476) Primitive reflex 9 / 7739
46
 (HPO:0002756) Pathologic fracture 30 / 7739
47
 (HPO:0003447) Axonal loss 11 / 7739
48
 (HPO:0003487) Babinski sign 179 / 7739
49
 (HPO:0004349) Reduced bone mineral density Very frequent [Orphanet] 165 / 7739
50
 (HPO:0010524) Agnosia Frequent [Orphanet] 6 / 7739
51
 (HPO:0011096) Peripheral demyelination 28 / 7739
52
 (OMIM) Pain and swelling in ankles and wrists after stress or injury beginning around age 20 years 1 / 7739
53
 (OMIM) Bone cysts filled with necrotic, fatty material 1 / 7739
54
 (OMIM) Cysts in patella and ends of long bones 1 / 7739
55
 (OMIM) Bone cysts in phalangeal, metacarpal, and carpal bones 1 / 7739
56
 (OMIM) Bone cysts in phalangeal, metatarsal, and tarsal bones 1 / 7739
57
 (OMIM) Dementia, presenile, progressive, beginning around age 30 years 1 / 7739
58
 (OMIM) Frontal lobe syndrome 1 / 7739
59
 (OMIM) Mild memory loss 1 / 7739
60
 (OMIM) MRI shows leukoencephalopathy 1 / 7739
61
 (OMIM) Neuropathologic examination shows severe demyelination 1 / 7739
62
 (OMIM) Loss of judgement 1 / 7739
63
 (HPO:0000719) Inappropriate behavior 5 / 7739
64
 (HPO:0001522) Death in infancy Occasional [Orphanet] 275 / 7739
65
 (HPO:0012719) Functional abnormality of the gastrointestinal tract Occasional [Orphanet] 17 / 7739
66
 (HPO:0100543) Cognitive impairment Very frequent [Orphanet] 230 / 7739
67
 (HPO:0004305) Involuntary movements Frequent [Orphanet] 50 / 7739
68
 (HPO:0100851) Abnormal emotion/affect behavior Very frequent [Orphanet] 85 / 7739
69
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739