Symptom Information: Sort according to HPO 

1
 (HPO:0002024) Malabsorption Occasional [Orphanet] 142 / 7739
2
 (HPO:0001000) Abnormality of skin pigmentation Occasional [Orphanet] 105 / 7739
3
 (HPO:0000588) Optic nerve coloboma Occasional [Orphanet] 27 / 7739
4
 (HPO:0001320) Cerebellar vermis hypoplasia 57 / 7739
5
 (HPO:0002334) Abnormality of the cerebellar vermis Frequent [Orphanet] 137 / 7739
6
 (HPO:0010759) Prominence of the premaxilla 5 / 7739
7
 (HPO:0012371) Hyperplasia of midface Frequent [Orphanet] 10 / 7739
8
 (HPO:0000252) Microcephaly Frequent [Orphanet] 832 / 7739
9
 (HPO:0002036) Hiatus hernia 24 / 7739
10
 (HPO:0001252) Muscular hypotonia Frequent [Orphanet] 990 / 7739
11
 (HPO:0001324) Muscle weakness 859 / 7739
12
 (HPO:0002884) Hepatoblastoma Occasional [Orphanet] 11 / 7739
13
 (HPO:0000568) Microphthalmia 183 / 7739
14
 (HPO:0001276) Hypertonia Frequent [Orphanet] 317 / 7739
15
 (HPO:0000411) Protruding ear Frequent [Orphanet] 140 / 7739
16
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Very frequent [Orphanet] 180 / 7739
17
 (HPO:0000202) Oral cleft Occasional [Orphanet] 120 / 7739
18
 (HPO:0002353) EEG abnormality Frequent [Orphanet] 188 / 7739
19
 (HPO:0000648) Optic atrophy 238 / 7739
20
 (HPO:0002937) Hemivertebrae 41 / 7739
21
 (HPO:0001385) Hip dysplasia Occasional [Orphanet] 242 / 7739
22
 (HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
23
 (HPO:0000639) Nystagmus Occasional [Orphanet] 555 / 7739
24
 (HPO:0005338) Sparse lateral eyebrow Frequent [Orphanet] 21 / 7739
25
 (HPO:0001357) Plagiocephaly Occasional [Orphanet] 106 / 7739
26
 (HPO:0200055) Small hand Occasional [Orphanet] 71 / 7739
27
 (HPO:0000826) Precocious puberty Occasional [Orphanet] 42 / 7739
28
 (HPO:0000921) Missing ribs Frequent [Orphanet] 62 / 7739
29
 (HPO:0001302) Pachygyria 60 / 7739
30
 (HPO:0002126) Polymicrogyria 64 / 7739
31
 (HPO:0002536) Abnormal cortical gyration Very frequent [Orphanet] 72 / 7739
32
 (HPO:0000541) Retinal detachment Occasional [Orphanet] 87 / 7739
33
 (HPO:0004374) Hemiplegia/hemiparesis Frequent [Orphanet] 158 / 7739
34
 (HPO:0001250) Seizures Very frequent [Orphanet] 1245 / 7739
35
 (HPO:0011097) Epileptic spasms 45 / 7739
36
 (HPO:0200008) Intestinal polyposis Occasional [Orphanet] 23 / 7739
37
 (HPO:0001012) Multiple lipomas Occasional [Orphanet] 43 / 7739
38
 (HPO:0012032) Lipoma 10 / 7739
39
 (HPO:0000322) Short philtrum Frequent [Orphanet] 130 / 7739
40
 (HPO:0002019) Constipation Occasional [Orphanet] 194 / 7739
41
 (HPO:0000510) Rod-cone dystrophy Very frequent [Orphanet] 266 / 7739
42
 (HPO:0002119) Ventriculomegaly Frequent [Orphanet] 253 / 7739
43
 (HPO:0000175) Cleft palate 349 / 7739
44
 (HPO:0000204) Cleft upper lip 193 / 7739
45
 (HPO:0000324) Facial asymmetry 57 / 7739
46
 (HPO:0000463) Anteverted nares 305 / 7739
47
 (HPO:0000518) Cataract 454 / 7739
48
 (HPO:0000892) Bifid ribs 4 / 7739
49
 (HPO:0000902) Rib fusion 19 / 7739
50
 (HPO:0001028) Hemangioma 23 / 7739
51
 (HPO:0001305) Dandy-Walker malformation 79 / 7739
52
 (HPO:0001338) Partial agenesis of the corpus callosum 22 / 7739
53
 (HPO:0002187) Intellectual disability, profound 44 / 7739
54
 (HPO:0002188) Delayed CNS myelination 16 / 7739
55
 (HPO:0002190) Choroid plexus cyst 5 / 7739
56
 (HPO:0002282) Heterotopia 21 / 7739
57
 (HPO:0002308) Arnold-Chiari malformation 42 / 7739
58
 (HPO:0002389) Cavum septum pellucidum 13 / 7739
59
 (HPO:0002414) Spina bifida 47 / 7739
60
 (HPO:0003305) Block vertebrae 7 / 7739
61
 (HPO:0003316) Butterfly vertebrae 6 / 7739
62
 (HPO:0003422) Vertebral segmentation defect Frequent [Orphanet] 95 / 7739
63
 (HPO:0005815) Supernumerary ribs 9 / 7739
64
 (HPO:0006532) Recurrent pneumonia 48 / 7739
65
 (HPO:0006956) Dilation of lateral ventricles 13 / 7739
66
 (HPO:0007082) Dilated third ventricle 3 / 7739
67
 (HPO:0007858) Chorioretinal lacunae 2 / 7739
68
 (HPO:0008056) Aplasia/Hypoplasia affecting the eye Frequent [Orphanet] 142 / 7739
69
 (HPO:0008897) Postnatal growth retardation 113 / 7739
70
 (HPO:0009623) Proximal placement of thumb 50 / 7739
71
 (HPO:0009792) Teratoma 7 / 7739
72
 (HPO:0010609) Skin tags 12 / 7739
73
 (HPO:0012469) Infantile spasms 18 / 7739
74
 (HPO:0100742) Vascular neoplasm Occasional [Orphanet] 3 / 7739
75
 (HPO:0200059) Metastatic angiosarcoma 1 / 7739
76
 (OMIM) Bilateral chorioretinopathy 1 / 7739
77
 (OMIM) Decreased angle of nasal bridge 1 / 7739
78
 (OMIM) Scalp lipoma 1 / 7739
79
 (OMIM) Multiple nevi 4 / 7739
80
 (OMIM) Hypopigmented macules 1 / 7739
81
 (HPO:0001048) Cavernous hemangioma 28 / 7739
82
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
83
 (HPO:0010547) Muscle flaccidity 466 / 7739
84
 (OMIM) Intracranial cysts 1 / 7739
85
 (HPO:0012448) Delayed myelination 51 / 7739
86
 (OMIM) Enlarged lateral and third ventricles 1 / 7739
87
 (OMIM) Cortical heterotopias 1 / 7739
88
 (OMIM) Subependymal heterotopias 1 / 7739
89
 (OMIM) Dysplasia of the cerebellar hemispheres 1 / 7739
90
 (OMIM) Polymicrogyria, predominantly frontal and perisylvian 1 / 7739
91
 (OMIM) Tectal enlargement 1 / 7739
92
 (OMIM) Widening of the operculum 1 / 7739
93
 (OMIM) Asymmetric brain development 1 / 7739
94
 (MedDRA:10048460) Teratoma benign 1 / 7739
95
 (OMIM) Embryonal carcinoma 1 / 7739
96
 (HPO:0002577) Abnormality of the stomach Occasional [Orphanet] 84 / 7739
97
 (HPO:0008373) Puberty and gonadal disorders Occasional [Orphanet] 156 / 7739
98
 (HPO:0000479) Abnormality of the retina Occasional [Orphanet] 74 / 7739
99
 (HPO:0004325) Decreased body weight Occasional [Orphanet] 492 / 7739
100
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
101
 (HPO:0012795) Abnormality of the optic disc Occasional [Orphanet] 187 / 7739
102
 (HPO:0001423) X-linked dominant inheritance 69 / 7739