Symptom Information: Sort according to HPO 

1
 (HPO:0000233) Thin vermilion border Frequent [Orphanet] 124 / 7739
2
 (HPO:0000572) Visual loss Frequent [Orphanet] 272 / 7739
3
 (HPO:0001320) Cerebellar vermis hypoplasia 57 / 7739
4
 (HPO:0002334) Abnormality of the cerebellar vermis Very frequent [Orphanet] 137 / 7739
5
 (HPO:0002335) Agenesis of cerebellar vermis 25 / 7739
6
 (HPO:0000262) Turricephaly Very frequent [Orphanet] 38 / 7739
7
 (HPO:0000298) Mask-like facies Frequent [Orphanet] 44 / 7739
8
 (HPO:0011800) Midface retrusion Very frequent [Orphanet] 221 / 7739
9
 (HPO:0000506) Telecanthus Frequent [Orphanet] 156 / 7739
10
 (HPO:0000358) Posteriorly rotated ears 163 / 7739
11
 (HPO:0000369) Low-set ears 372 / 7739
12
 (HPO:0000463) Anteverted nares Frequent [Orphanet] 305 / 7739
13
 (HPO:0002363) Abnormality of brainstem morphology Very frequent [Orphanet] 14 / 7739
14
 (HPO:0000238) Hydrocephalus Very frequent [Orphanet] 278 / 7739
15
 (HPO:0000316) Hypertelorism Frequent [Orphanet] 644 / 7739
16
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
17
 (HPO:0001006) Hypotrichosis Very frequent [Orphanet] 219 / 7739
18
 (HPO:0001251) Ataxia 413 / 7739
19
 (HPO:0002066) Gait ataxia Very frequent [Orphanet] 327 / 7739
20
 (HPO:0007021) Pain insensitivity Very frequent [Orphanet] 35 / 7739
21
 (HPO:0001805) Thick nail Frequent [Orphanet] 96 / 7739
22
 (HPO:0000248) Brachycephaly Very frequent [Orphanet] 222 / 7739
23
 (HPO:0007759) Opacification of the corneal stroma 77 / 7739
24
 (HPO:0007957) Corneal opacity 84 / 7739
25
 (HPO:0000218) High palate 356 / 7739
26
 (HPO:0000260) Wide anterior fontanel 55 / 7739
27
 (HPO:0000319) Smooth philtrum 72 / 7739
28
 (HPO:0000486) Strabismus 576 / 7739
29
 (HPO:0000752) Hyperactivity 140 / 7739
30
 (HPO:0000824) Growth hormone deficiency 56 / 7739
31
 (HPO:0001250) Seizures 1245 / 7739
32
 (HPO:0001276) Hypertonia 317 / 7739
33
 (HPO:0001347) Hyperreflexia 363 / 7739
34
 (HPO:0001363) Craniosynostosis 132 / 7739
35
 (HPO:0001596) Alopecia 162 / 7739
36
 (HPO:0002645) Wormian bones 65 / 7739
37
 (HPO:0002678) Skull asymmetry 4 / 7739
38
 (HPO:0003196) Short nose 264 / 7739
39
 (HPO:0006899) Fusion of the cerebellar hemispheres 1 / 7739
40
 (HPO:0007302) Bipolar affective disorder 15 / 7739
41
 (HPO:0100543) Cognitive impairment 230 / 7739
42
 (HPO:0100716) Self-injurious behavior 43 / 7739
43
 (OMIM) Absent corneal reflexes 2 / 7739
44
 (OMIM) Overlapping sutures 1 / 7739
45
 (OMIM) Parieto-occipital alopecia 1 / 7739
46
 (OMIM) Trigeminal anesthesia 1 / 7739
47
 (OMIM) Head-rolling movements 1 / 7739
48
 (HPO:0001252) Muscular hypotonia 990 / 7739
49
 (HPO:0001324) Muscle weakness 859 / 7739
50
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
51
 (HPO:0010547) Muscle flaccidity 466 / 7739
52
 (OMIM) Head nodding 5 / 7739
53
 (HPO:0001317) Abnormality of the cerebellum 36 / 7739
54
 (OMIM) Rhombencephalosynapsis 1 / 7739
55
 (OMIM) Agenesis or hypogenesis of the cerebellar vermis 1 / 7739
56
 (OMIM) Fusion of the dentate nuclei and the superior cerebellar peduncles 1 / 7739
57
 (HPO:0000716) Depression 99 / 7739
58
 (HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 328 / 7739
59
 (HPO:0000481) Abnormality of the cornea Very frequent [Orphanet] 124 / 7739
60
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
61
 (HPO:0000272) Malar flattening 277 / 7739
62
 (HPO:0003745) Sporadic 131 / 7739