Symptom Information: Sort according to HPO 

1
 (HPO:0002334) Abnormality of the cerebellar vermis Very frequent [Orphanet] 137 / 7739
2
 (HPO:0001252) Muscular hypotonia Occasional [Orphanet] 990 / 7739
3
 (HPO:0001324) Muscle weakness Occasional [Orphanet] 859 / 7739
4
 (HPO:0002615) Hypotension Frequent [Orphanet] 52 / 7739
5
 (HPO:0001257) Spasticity 251 / 7739
6
 (HPO:0001276) Hypertonia Very frequent [Orphanet] 317 / 7739
7
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Very frequent [Orphanet] 180 / 7739
8
 (HPO:0001251) Ataxia Common [HPO:probinson] 12975300 IBIS 413 / 7739
9
 (HPO:0002066) Gait ataxia Frequent [Orphanet] 327 / 7739
10
 (HPO:0002376) Developmental regression 74 / 7739
11
 (HPO:0100247) Recurrent singultus Frequent [Orphanet] 7 / 7739
12
 (HPO:0002650) Scoliosis Very frequent [Orphanet] 705 / 7739
13
 (HPO:0000639) Nystagmus Frequent [Orphanet] 555 / 7739
14
 (HPO:0001347) Hyperreflexia Very frequent [Orphanet] 363 / 7739
15
 (HPO:0010628) Facial palsy Frequent [Orphanet] 146 / 7739
16
 (HPO:0000712) Emotional lability Frequent [Orphanet] 44 / 7739
17
 (HPO:0000822) Hypertension Occasional [Orphanet] 224 / 7739
18
 (HPO:0002045) Hypothermia Frequent [Orphanet] 27 / 7739
19
 (HPO:0001288) Gait disturbance Frequent [Orphanet] 318 / 7739
20
 (HPO:0004374) Hemiplegia/hemiparesis Frequent [Orphanet] 158 / 7739
21
 (HPO:0100716) Self-injurious behavior Occasional [Orphanet] 43 / 7739
22
 (HPO:0001250) Seizures Very frequent [Orphanet] 1245 / 7739
23
 (HPO:0100729) Large face Very frequent [Orphanet] 19 / 7739
24
 (HPO:0000995) Melanocytic nevus Occasional [Orphanet] 63 / 7739
25
 (HPO:0002360) Sleep disturbance Very frequent [Orphanet] 113 / 7739
26
 (HPO:0002019) Constipation Frequent [Orphanet] 194 / 7739
27
 (HPO:0002410) Aqueductal stenosis Occasional [Orphanet] 19 / 7739
28
 (HPO:0002007) Frontal bossing Very frequent [Orphanet] 366 / 7739
29
 (HPO:0002607) Bowel incontinence Occasional [Orphanet] 33 / 7739
30
 (HPO:0002383) Encephalitis Occasional [Orphanet] 41 / 7739
31
 (HPO:0002093) Respiratory insufficiency Occasional [Orphanet] 410 / 7739
32
 (HPO:0000496) Abnormality of eye movement Frequent [Orphanet] 79 / 7739
33
 (HPO:0000238) Hydrocephalus Occasional [Orphanet] 278 / 7739
34
 (HPO:0001695) Cardiac arrest Occasional [Orphanet] 87 / 7739
35
 (HPO:0002353) EEG abnormality Very frequent [Orphanet] 188 / 7739
36
 (HPO:0002705) High, narrow palate Occasional [Orphanet] 308 / 7739
37
 (HPO:0000819) Diabetes mellitus Occasional [Orphanet] 131 / 7739
38
 (HPO:0000651) Diplopia Frequent [Orphanet] 37 / 7739
39
 (HPO:0000826) Precocious puberty Occasional [Orphanet] 42 / 7739
40
 (HPO:0002270) Abnormality of the autonomic nervous system Occasional [Orphanet] 22 / 7739
41
 (HPO:0000470) Short neck Occasional [Orphanet] 345 / 7739
42
 (HPO:0001355) Megalencephaly Very frequent [Orphanet] 39 / 7739
43
 (HPO:0002808) Kyphosis Frequent [Orphanet] 289 / 7739
44
 (HPO:0000508) Ptosis Frequent [Orphanet] 459 / 7739
45
 (HPO:0000821) Hypothyroidism Occasional [Orphanet] 141 / 7739
46
 (HPO:0007256) Abnormal pyramidal signs Very frequent [Orphanet] 116 / 7739
47
 (HPO:0001337) Tremor Frequent [Orphanet] 200 / 7739
48
 (HPO:0002104) Apnea Frequent [Orphanet] 106 / 7739
49
 (HPO:0002015) Dysphagia Frequent [Orphanet] 301 / 7739
50
 (HPO:0003307) Hyperlordosis Occasional [Orphanet] 122 / 7739
51
 (HPO:0002017) Nausea and vomiting Very frequent [Orphanet] 134 / 7739
52
 (HPO:0002514) Cerebral calcification Frequent [Orphanet] 89 / 7739
53
 (HPO:0002167) Neurological speech impairment Frequent [Orphanet] 308 / 7739
54
 (HPO:0002483) Bulbar signs 9 / 7739
55
 (HPO:0002922) Increased CSF protein 27 / 7739
56
 (HPO:0004349) Reduced bone mineral density Occasional [Orphanet] 165 / 7739
57
 (HPO:0004481) Progressive macrocephaly 8 / 7739
58
 (HPO:0007162) Diffuse demyelination of the cerebral white matter 3 / 7739
59
 (OMIM) Diffuse demyelination (increased signal intensity in T2-weighted images, especially frontal lobes) 1 / 7739
60
 (OMIM) Coarsened pattern of sulci and gyri 1 / 7739
61
 (OMIM) Presence of Rosenthal fibers (eosinophilic bodies near astrocyte filaments) 1 / 7739
62
 (OMIM) Presence of Rosenthal fibers (cytoplasmic inclusions) in astrocytes 1 / 7739
63
 (OMIM) Presence of glial fibrillary acidic proteins (GFAP) in astrocytes 1 / 7739
64
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
65
 (HPO:0100543) Cognitive impairment Occasional [Orphanet] 230 / 7739
66
 (HPO:0004305) Involuntary movements Occasional [Orphanet] 50 / 7739
67
 (HPO:0011442) Abnormality of central motor function Very frequent [Orphanet] 76 / 7739
68
 (HPO:0001357) Plagiocephaly Frequent [Orphanet] 106 / 7739
69
 (HPO:0100851) Abnormal emotion/affect behavior Frequent [Orphanet] 85 / 7739
70
 (HPO:0011037) Decreased urine output Frequent [Orphanet] 47 / 7739
71
 (HPO:0001522) Death in infancy Occasional [Orphanet] 275 / 7739
72
 (HPO:0002839) Urinary bladder sphincter dysfunction Frequent [Orphanet] 34 / 7739
73
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
74
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
75
 (HPO:0003593) Infantile onset 249 / 7739