Symptom Information: Sort according to HPO 

1
(HPO:0001387) Joint stiffness Occasional [Orphanet] 322 / 7739
2
(HPO:0000733) Stereotypy Very frequent [Orphanet] common [HPO] 58 / 7739
3
(HPO:0000158) Macroglossia Frequent [Orphanet] 119 / 7739
4
(HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
5
(HPO:0000303) Mandibular prognathia Frequent [Orphanet] common [HPO] 179 / 7739
6
(HPO:0000405) Conductive hearing impairment Frequent [Orphanet] 164 / 7739
7
(HPO:0000545) Myopia Frequent [Orphanet] 286 / 7739
8
(HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Frequent [Orphanet] 180 / 7739
9
(HPO:0000431) Wide nasal bridge typical [HPO] 290 / 7739
10
(HPO:0000445) Wide nose Very frequent [Orphanet] 190 / 7739
11
(HPO:0001265) Hyporeflexia common [HPO] 208 / 7739
12
(HPO:0001284) Areflexia 198 / 7739
13
(HPO:0001315) Reduced tendon reflexes Very frequent [Orphanet] 160 / 7739
14
(HPO:0010804) Tented upper lip vermilion Very frequent [Orphanet] 47 / 7739
15
(HPO:0001161) Hand polydactyly Occasional [Orphanet] 71 / 7739
16
(HPO:0000582) Upslanted palpebral fissure Very frequent [Orphanet] 185 / 7739
17
(HPO:0030680) Abnormality of cardiovascular system morphology Frequent [Orphanet] 355 / 7739
18
(HPO:0005280) Depressed nasal bridge Very frequent [Orphanet] 381 / 7739
19
(HPO:0002650) Scoliosis Frequent [Orphanet] typical [HPO] 705 / 7739
20
(HPO:0002155) Hypertriglyceridemia typical [HPO] 67 / 7739
21
(HPO:0003124) Hypercholesterolemia typical [HPO] 53 / 7739
22
(HPO:0000490) Deeply set eye Very frequent [Orphanet] common [HPO] 131 / 7739
23
(HPO:0001557) Prenatal movement abnormality Frequent [Orphanet] 16 / 7739
24
(HPO:0000482) Microcornea Frequent [Orphanet] 102 / 7739
25
(HPO:0000752) Hyperactivity Very frequent [Orphanet] 140 / 7739
26
(HPO:0011800) Midface retrusion Very frequent [Orphanet] 221 / 7739
27
(HPO:0000463) Anteverted nares Frequent [Orphanet] 305 / 7739
28
(HPO:0000541) Retinal detachment Occasional [Orphanet] occasional [HPO] 87 / 7739
29
(HPO:0001288) Gait disturbance Frequent [Orphanet] 318 / 7739
30
(HPO:0003196) Short nose Frequent [Orphanet] 264 / 7739
31
(HPO:0003312) Abnormal form of the vertebral bodies Frequent [Orphanet] 172 / 7739
32
(HPO:0001250) Seizures Occasional [Orphanet] frequent [HPO] 1245 / 7739
33
(HPO:0000742) Self-mutilation common [HPO] 27 / 7739
34
(HPO:0100716) Self-injurious behavior Very frequent [Orphanet] 43 / 7739
35
(HPO:0000283) Broad face common [HPO] 12 / 7739
36
(HPO:0100729) Large face Very frequent [Orphanet] 19 / 7739
37
(HPO:0000194) Open mouth Frequent [Orphanet] 70 / 7739
38
(HPO:0002360) Sleep disturbance Very frequent [Orphanet] common [HPO] 113 / 7739
39
(HPO:0004279) Short palm Very frequent [Orphanet] common [HPO] 323 / 7739
40
(HPO:0002019) Constipation Frequent [Orphanet] typical [HPO] 194 / 7739
41
(HPO:0002119) Ventriculomegaly Frequent [Orphanet] typical [HPO] 253 / 7739
42
(HPO:0001763) Pes planus Frequent [Orphanet] typical [HPO] 176 / 7739
43
(HPO:0009830) Peripheral neuropathy Frequent [Orphanet] 206 / 7739
44
(HPO:0001513) Obesity Very frequent [Orphanet] 172 / 7739
45
(HPO:0002007) Frontal bossing Very frequent [Orphanet] 366 / 7739
46
(HPO:0000252) Microcephaly Occasional [Orphanet] 832 / 7739
47
(HPO:0010780) Hyperacusis Frequent [Orphanet] typical [HPO] 5 / 7739
48
(HPO:0000316) Hypertelorism Frequent [Orphanet] 644 / 7739
49
(HPO:0002353) EEG abnormality Frequent [Orphanet] typical [HPO] 188 / 7739
50
(HPO:0007021) Pain insensitivity Frequent [Orphanet] 35 / 7739
51
(HPO:0007328) Impaired pain sensation typical [HPO] 10 / 7739
52
(HPO:0001608) Abnormality of the voice Very frequent [Orphanet] 126 / 7739
53
(HPO:0000248) Brachycephaly Very frequent [Orphanet] common [HPO] 222 / 7739
54
(HPO:0000826) Precocious puberty Occasional [Orphanet] 42 / 7739
55
(HPO:0000664) Synophrys Very frequent [Orphanet] typical [HPO] 112 / 7739
56
(HPO:0000389) Chronic otitis media Frequent [Orphanet] 64 / 7739
57
(HPO:0004209) Clinodactyly of the 5th finger Frequent [Orphanet] 288 / 7739
58
(HPO:0000821) Hypothyroidism Occasional [Orphanet] 141 / 7739
59
(HPO:0000204) Cleft upper lip Occasional [Orphanet] 193 / 7739
60
(HPO:0001770) Toe syndactyly Frequent [Orphanet] 149 / 7739
61
(HPO:0000337) Broad forehead Very frequent [Orphanet] 116 / 7739
62
(HPO:0004322) Short stature Frequent [Orphanet] typical [HPO] 1232 / 7739
63
(HPO:0000486) Strabismus Frequent [Orphanet] 576 / 7739
64
(HPO:0000679) Taurodontia Very frequent [Orphanet] 27 / 7739
65
(HPO:0000322) Short philtrum Frequent [Orphanet] 130 / 7739
66
(HPO:0000220) Velopharyngeal insufficiency Very frequent [Orphanet] typical [HPO] 10 / 7739
67
(HPO:0001249) Intellectual disability 1089 / 7739
68
(HPO:0001263) Global developmental delay common [HPO] 853 / 7739
69
(HPO:0000069) Abnormality of the ureter Occasional [Orphanet] 47 / 7739
70
(HPO:0000356) Abnormality of the outer ear typical [HPO] 85 / 7739
71
(HPO:0000750) Delayed speech and language development common [HPO] 197 / 7739
72
(HPO:0001169) Broad palm common [HPO] 43 / 7739
73
(HPO:0001290) Generalized hypotonia common [HPO] 51 / 7739
74
(HPO:0001609) Hoarse voice common [HPO] 34 / 7739
75
(HPO:0002167) Neurological speech impairment Very frequent [Orphanet] 308 / 7739
76
(HPO:0002973) Abnormality of the forearm occasional [HPO] 3 / 7739
77
(HPO:0005607) Abnormality of the tracheobronchial system typical [HPO] 2 / 7739
78
(HPO:0008609) Morphological abnormality of the middle ear common [HPO] 2 / 7739
79
(HPO:0008678) Renal hypoplasia/aplasia Occasional [Orphanet] 127 / 7739
80
(HPO:0009804) Reduced number of teeth Very frequent [Orphanet] 137 / 7739
81
(HPO:0010803) Everted upper lip vermilion common [HPO] 4 / 7739
82
(HPO:0012168) Head-banging 2 / 7739
83
(HPO:0012210) Abnormal renal morphology 18 / 7739
84
(HPO:0100542) Abnormal localization of kidney Occasional [Orphanet] 64 / 7739
85
(HPO:0000365) Hearing impairment 539 / 7739
86
(MedDRA:10072883) Brachydactyly 153 / 7739
87
(OMIM) Structural brain abnormalities 1 / 7739
88
(OMIM) Decreased pain sensitivity 2 / 7739
89
(OMIM) Normal nerve conduction velocities 2 / 7739
90
(OMIM) Polyembolokoilamania (insertion of foreign bodies into body orifices) 1 / 7739
91
(HPO:0000708) Behavioral abnormality 212 / 7739
92
(OMIM) Self-destructive behavior 1 / 7739
93
(OMIM) Onychotillomania (pulling out nails) 1 / 7739
94
(OMIM) Wrist-biting 1 / 7739
95
(OMIM) Interstitial deletion of 17p11.2 (most common is 3.7Mb) 1 / 7739
96
(HPO:0002577) Abnormality of the stomach Frequent [Orphanet] 84 / 7739
97
(HPO:0000277) Abnormality of the mandible Frequent [Orphanet] 394 / 7739
98
(HPO:0003119) Abnormality of lipid metabolism Frequent [Orphanet] 60 / 7739
99
(HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
100
(HPO:0008373) Puberty and gonadal disorders Occasional [Orphanet] 156 / 7739
101
(HPO:0004325) Decreased body weight Frequent [Orphanet] 492 / 7739
102
(HPO:0100851) Abnormal emotion/affect behavior Very frequent [Orphanet] 85 / 7739
103
(HPO:0000174) Abnormality of the palate Occasional [Orphanet] 298 / 7739
104
(HPO:0003220) Abnormality of chromosome stability Very frequent [Orphanet] 98 / 7739
105
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
106
(HPO:0000272) Malar flattening common [HPO] 277 / 7739
107
(HPO:0001156) Brachydactyly syndrome common [HPO] 180 / 7739
108
(HPO:0001600) Abnormality of the larynx common [HPO] 15 / 7739
109
(HPO:0003745) Sporadic 131 / 7739
110
(HPO:0030680) Abnormality of cardiovascular system morphology frequent [HPO] 355 / 7739