Symptom Information: Sort according to HPO 

1
 (HPO:0000572) Visual loss Frequent [Orphanet] 272 / 7739
2
 (HPO:0002334) Abnormality of the cerebellar vermis Occasional [Orphanet] 137 / 7739
3
 (HPO:0001252) Muscular hypotonia Frequent [Orphanet] 990 / 7739
4
 (HPO:0000717) Autism Frequent [Orphanet] 108 / 7739
5
 (HPO:0008734) Decreased testicular size Occasional [Orphanet] 105 / 7739
6
 (HPO:0000771) Gynecomastia Occasional [Orphanet] 53 / 7739
7
 (HPO:0000581) Blepharophimosis Very frequent [Orphanet] 197 / 7739
8
 (HPO:0000431) Wide nasal bridge Very frequent [Orphanet] 290 / 7739
9
 (HPO:0001257) Spasticity 251 / 7739
10
 (HPO:0001276) Hypertonia Frequent [Orphanet] 317 / 7739
11
 (HPO:0002999) Patellar dislocation Occasional [Orphanet] 46 / 7739
12
 (HPO:0001863) Toe clinodactyly Occasional [Orphanet] 12 / 7739
13
 (HPO:0002650) Scoliosis Occasional [Orphanet] 705 / 7739
14
 (HPO:0000072) Hydroureter Frequent [Orphanet] 146 / 7739
15
 (HPO:0000126) Hydronephrosis 119 / 7739
16
 (HPO:0000348) High forehead Occasional [Orphanet] 157 / 7739
17
 (HPO:0001561) Polyhydramnios Occasional [Orphanet] 191 / 7739
18
 (HPO:0000752) Hyperactivity Frequent [Orphanet] 140 / 7739
19
 (HPO:0007018) Attention deficit hyperactivity disorder 56 / 7739
20
 (HPO:0010628) Facial palsy Occasional [Orphanet] 146 / 7739
21
 (HPO:0000506) Telecanthus Very frequent [Orphanet] 156 / 7739
22
 (HPO:0000232) Everted lower lip vermilion Very frequent [Orphanet] 90 / 7739
23
 (HPO:0001288) Gait disturbance Occasional [Orphanet] 318 / 7739
24
 (HPO:0002213) Fine hair Occasional [Orphanet] 77 / 7739
25
 (HPO:0001511) Intrauterine growth retardation Frequent [Orphanet] 358 / 7739
26
 (HPO:0002119) Ventriculomegaly Occasional [Orphanet] 253 / 7739
27
 (HPO:0001763) Pes planus Occasional [Orphanet] 176 / 7739
28
 (HPO:0000343) Long philtrum Very frequent [Orphanet] 262 / 7739
29
 (HPO:0001182) Tapered finger Frequent [Orphanet] 93 / 7739
30
 (HPO:0011968) Feeding difficulties 240 / 7739
31
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
32
 (HPO:0005487) Prominent metopic ridge Occasional [Orphanet] 28 / 7739
33
 (HPO:0000160) Narrow mouth Occasional [Orphanet] 188 / 7739
34
 (HPO:0000767) Pectus excavatum Occasional [Orphanet] 244 / 7739
35
 (HPO:0001852) Sandal gap Occasional [Orphanet] 63 / 7739
36
 (HPO:0000411) Protruding ear Frequent [Orphanet] 140 / 7739
37
 (HPO:0000278) Retrognathia 100 / 7739
38
 (HPO:0000098) Tall stature Occasional [Orphanet] 74 / 7739
39
 (HPO:0000494) Downslanted palpebral fissures Very frequent [Orphanet] 328 / 7739
40
 (HPO:0001840) Metatarsus adductus Frequent [Orphanet] 49 / 7739
41
 (HPO:0100625) Enlarged thorax Occasional [Orphanet] 15 / 7739
42
 (HPO:0002353) EEG abnormality Occasional [Orphanet] 188 / 7739
43
 (HPO:0001608) Abnormality of the voice Occasional [Orphanet] 126 / 7739
44
 (HPO:0001611) Nasal speech 48 / 7739
45
 (HPO:0000218) High palate 356 / 7739
46
 (HPO:0002705) High, narrow palate Very frequent [Orphanet] 308 / 7739
47
 (HPO:0000248) Brachycephaly Frequent [Orphanet] 222 / 7739
48
 (HPO:0000340) Sloping forehead Frequent [Orphanet] 86 / 7739
49
 (HPO:0000135) Hypogonadism 89 / 7739
50
 (HPO:0000426) Prominent nasal bridge Very frequent [Orphanet] 121 / 7739
51
 (HPO:0002205) Recurrent respiratory infections Frequent [Orphanet] 254 / 7739
52
 (HPO:0000365) Hearing impairment Occasional [Orphanet] 539 / 7739
53
 (HPO:0001302) Pachygyria 60 / 7739
54
 (HPO:0002536) Abnormal cortical gyration Frequent [Orphanet] 72 / 7739
55
 (HPO:0002808) Kyphosis Occasional [Orphanet] 289 / 7739
56
 (HPO:0000508) Ptosis Very frequent [Orphanet] 459 / 7739
57
 (HPO:0001601) Laryngomalacia Occasional [Orphanet] 61 / 7739
58
 (HPO:0001646) Abnormality of the aortic valve Occasional [Orphanet] 55 / 7739
59
 (HPO:0002558) Supernumerary nipple Occasional [Orphanet] 40 / 7739
60
 (HPO:0002015) Dysphagia Occasional [Orphanet] 301 / 7739
61
 (HPO:0000954) Single transverse palmar crease Occasional [Orphanet] 162 / 7739
62
 (HPO:0004322) Short stature Frequent [Orphanet] 1232 / 7739
63
 (HPO:0000486) Strabismus Frequent [Orphanet] 576 / 7739
64
 (HPO:0000286) Epicanthus Very frequent [Orphanet] 371 / 7739
65
 (HPO:0001249) Intellectual disability 1089 / 7739
66
 (HPO:0001263) Global developmental delay 853 / 7739
67
 (HPO:0000341) Narrow forehead Frequent [Orphanet] 96 / 7739
68
 (HPO:0000054) Micropenis 257 / 7739
69
 (HPO:0000400) Macrotia 108 / 7739
70
 (HPO:0000407) Sensorineural hearing impairment 524 / 7739
71
 (HPO:0008527) Congenital sensorineural hearing impairment 165 / 7739
72
 (HPO:0008625) Severe sensorineural hearing impairment 150 / 7739
73
 (HPO:0000499) Abnormality of the eyelashes Frequent [Orphanet] 35 / 7739
74
 (HPO:0000609) Optic nerve hypoplasia 26 / 7739
75
 (HPO:0001166) Arachnodactyly 62 / 7739
76
 (HPO:0001633) Abnormality of the mitral valve Occasional [Orphanet] 69 / 7739
77
 (HPO:0001848) Calcaneovalgus deformity 12 / 7739
78
 (HPO:0002167) Neurological speech impairment Occasional [Orphanet] 308 / 7739
79
 (HPO:0002539) Cortical dysplasia 19 / 7739
80
 (HPO:0002751) Kyphoscoliosis 131 / 7739
81
 (HPO:0002788) Recurrent upper respiratory tract infections 31 / 7739
82
 (HPO:0004299) Hernia of the abdominal wall Occasional [Orphanet] 176 / 7739
83
 (HPO:0005105) Abnormal nasal morphology Frequent [Orphanet] 114 / 7739
84
 (HPO:0005274) Prominent nasal tip 6 / 7739
85
 (HPO:0006610) Wide intermamillary distance 46 / 7739
86
 (HPO:0009473) Joint contracture of the hand 84 / 7739
87
 (HPO:0012385) Camptodactyly 113 / 7739
88
 (HPO:0100490) Camptodactyly of finger Frequent [Orphanet] 212 / 7739
89
 (HPO:0100840) Aplasia/Hypoplasia of the eyebrow Occasional [Orphanet] 117 / 7739
90
 (OMIM) Receding, short forehead 1 / 7739
91
 (OMIM) Long smooth philtrum 9 / 7739
92
 (OMIM) Widened inner canthal distance 1 / 7739
93
 (OMIM) Long, straight eyelashes 1 / 7739
94
 (OMIM) High nasal root 1 / 7739
95
 (OMIM) Smooth upper vermilion border 1 / 7739
96
 (OMIM) Valvular defects 3 / 7739
97
 (OMIM) Spasticity of the lower limbs 5 / 7739
98
 (OMIM) [DEL]Autistic features 43 / 7739
99
 (HPO:0003220) Abnormality of chromosome stability Very frequent [Orphanet] 98 / 7739
100
 (HPO:0004325) Decreased body weight Frequent [Orphanet] 492 / 7739
101
 (HPO:0000107) Renal cyst Occasional [Orphanet] 126 / 7739
102
 (HPO:0000277) Abnormality of the mandible Frequent [Orphanet] 394 / 7739
103
 (HPO:0004404) Abnormality of the nipple Frequent [Orphanet] 54 / 7739
104
 (HPO:0000288) Abnormality of the philtrum Very frequent [Orphanet] 54 / 7739
105
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
106
 (HPO:0008373) Puberty and gonadal disorders Occasional [Orphanet] 156 / 7739
107
 (HPO:0000357) Abnormal location of ears Frequent [Orphanet] 328 / 7739
108
 (HPO:0012795) Abnormality of the optic disc Very frequent [Orphanet] 187 / 7739
109
 (HPO:0003745) Sporadic 131 / 7739
110
 (HPO:0008872) Feeding difficulties in infancy 153 / 7739
111
 (HPO:0012745) Short palpebral fissure 47 / 7739