Symptom Information: Sort according to HPO 

1
 (HPO:0002334) Abnormality of the cerebellar vermis Very frequent [Orphanet] 137 / 7739
2
 (HPO:0000252) Microcephaly Frequent [Orphanet] 832 / 7739
3
 (HPO:0000505) Visual impairment Frequent [Orphanet] 297 / 7739
4
 (HPO:0001257) Spasticity 251 / 7739
5
 (HPO:0001276) Hypertonia Occasional [Orphanet] 317 / 7739
6
 (HPO:0000545) Myopia Frequent [Orphanet] 286 / 7739
7
 (HPO:0000431) Wide nasal bridge 290 / 7739
8
 (HPO:0000445) Wide nose Frequent [Orphanet] 190 / 7739
9
 (HPO:0000316) Hypertelorism Frequent [Orphanet] 644 / 7739
10
 (HPO:0000347) Micrognathia 426 / 7739
11
 (HPO:0002650) Scoliosis Occasional [Orphanet] occasional [HPO:skoehler] 705 / 7739
12
 (HPO:0000639) Nystagmus Frequent [Orphanet] rare [HPO:skoehler] 555 / 7739
13
 (HPO:0002120) Cerebral cortical atrophy Frequent [Orphanet] 187 / 7739
14
 (HPO:0000518) Cataract Frequent [Orphanet] 454 / 7739
15
 (HPO:0001288) Gait disturbance Frequent [Orphanet] 318 / 7739
16
 (HPO:0000337) Broad forehead Frequent [Orphanet] 116 / 7739
17
 (HPO:0001250) Seizures Frequent [Orphanet] rare [HPO:skoehler] 1245 / 7739
18
 (HPO:0000486) Strabismus Frequent [Orphanet] occasional [HPO:skoehler] 576 / 7739
19
 (HPO:0000407) Sensorineural hearing impairment Frequent [Orphanet] rare [HPO:skoehler] 524 / 7739
20
 (HPO:0008527) Congenital sensorineural hearing impairment 165 / 7739
21
 (HPO:0008625) Severe sensorineural hearing impairment 150 / 7739
22
 (HPO:0001263) Global developmental delay 853 / 7739
23
 (HPO:0000343) Long philtrum Frequent [Orphanet] 262 / 7739
24
 (HPO:0000286) Epicanthus 371 / 7739
25
 (HPO:0000400) Macrotia 108 / 7739
26
 (HPO:0000426) Prominent nasal bridge 121 / 7739
27
 (HPO:0000455) Broad nasal tip 67 / 7739
28
 (HPO:0000543) Optic disc pallor occasional [HPO:skoehler] 67 / 7739
29
 (HPO:0000609) Optic nerve hypoplasia occasional [HPO:skoehler] 26 / 7739
30
 (HPO:0001290) Generalized hypotonia 51 / 7739
31
 (HPO:0001321) Cerebellar hypoplasia 114 / 7739
32
 (HPO:0001344) Absent speech 57 / 7739
33
 (HPO:0002167) Neurological speech impairment Occasional [Orphanet] 308 / 7739
34
 (HPO:0002198) Dilated fourth ventricle 12 / 7739
35
 (HPO:0002342) Intellectual disability, moderate 37 / 7739
36
 (HPO:0003196) Short nose 264 / 7739
37
 (HPO:0004322) Short stature 1232 / 7739
38
 (HPO:0004325) Decreased body weight Occasional [Orphanet] 492 / 7739
39
 (HPO:0007227) Macrogyria occasional [HPO:skoehler] 9 / 7739
40
 (HPO:0008897) Postnatal growth retardation 113 / 7739
41
 (HPO:0008936) Muscular hypotonia of the trunk 77 / 7739
42
 (HPO:0000253) Progressive microcephaly 37 / 7739
43
 (OMIM) Hypertelorism, mild 11 / 7739
44
 (HPO:0001252) Muscular hypotonia 990 / 7739
45
 (HPO:0001324) Muscle weakness 859 / 7739
46
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
47
 (HPO:0010547) Muscle flaccidity 466 / 7739
48
 (OMIM) Mental retardation, moderate to severe 20 / 7739
49
 (OMIM) Most never acquire independent ambulation 1 / 7739
50
 (OMIM) Lack of speech development 20 / 7739
51
 (OMIM) Peripheral hypertonia 4 / 7739
52
 (HPO:0001327) Photomyoclonic seizures 125 / 7739
53
 (OMIM) Brain MRI shows proportionate pontocerebellar hypoplasia 1 / 7739
54
 (OMIM) Simplified gyration in the frontal cortex (less common) 1 / 7739
55
 (HPO:0000277) Abnormality of the mandible Frequent [Orphanet] 394 / 7739
56
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
57
 (HPO:0012795) Abnormality of the optic disc Occasional [Orphanet] 187 / 7739
58
 (HPO:0400004) Long ear Frequent [Orphanet] 94 / 7739
59
 (HPO:0000479) Abnormality of the retina Occasional [Orphanet] 74 / 7739
60
 (HPO:0000218) High palate 356 / 7739
61
 (HPO:0000300) Oval face 5 / 7739
62
 (HPO:0000966) Hypohidrosis 41 / 7739
63
 (HPO:0001090) Large eyes 20 / 7739
64
 (HPO:0001347) Hyperreflexia 363 / 7739