Symptom Information: Sort according to HPO 

1
(HPO:0000733) Stereotypy Occasional [Orphanet] 58 / 7739
2
(HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
3
(HPO:0000717) Autism Occasional [Orphanet] 108 / 7739
4
(HPO:0000405) Conductive hearing impairment Occasional [Orphanet] 164 / 7739
5
(HPO:0002779) Tracheomalacia Occasional [Orphanet] 26 / 7739
6
(HPO:0000708) Behavioral abnormality Frequent [Orphanet] 212 / 7739
7
(HPO:0000582) Upslanted palpebral fissure Frequent [Orphanet] 185 / 7739
8
(HPO:0030680) Abnormality of cardiovascular system morphology Frequent [Orphanet] 355 / 7739
9
(HPO:0005280) Depressed nasal bridge Frequent [Orphanet] 381 / 7739
10
(HPO:0000490) Deeply set eye Frequent [Orphanet] 131 / 7739
11
(HPO:0000722) Obsessive-compulsive behavior Occasional [Orphanet] 35 / 7739
12
(HPO:0011800) Midface retrusion Very frequent [Orphanet] 221 / 7739
13
(HPO:0000752) Hyperactivity Occasional [Orphanet] 140 / 7739
14
(HPO:0000463) Anteverted nares Frequent [Orphanet] 305 / 7739
15
(HPO:0001250) Seizures Frequent [Orphanet] rare [HPO:skoehler] 1245 / 7739
16
(HPO:0002714) Downturned corners of mouth Frequent [Orphanet] 98 / 7739
17
(HPO:0004279) Short palm Frequent [Orphanet] 323 / 7739
18
(HPO:0009803) Short phalanx of finger 79 / 7739
19
(HPO:0000775) Abnormality of the diaphragm Occasional [Orphanet] 62 / 7739
20
(HPO:0002360) Sleep disturbance Occasional [Orphanet] 113 / 7739
21
(HPO:0000233) Thin vermilion border Frequent [Orphanet] 124 / 7739
22
(HPO:0000311) Round face Very frequent [Orphanet] 104 / 7739
23
(HPO:0001513) Obesity Frequent [Orphanet] 172 / 7739
24
(HPO:0002007) Frontal bossing Frequent [Orphanet] 366 / 7739
25
(HPO:0002667) Nephroblastoma Occasional [Orphanet] 30 / 7739
26
(HPO:0000252) Microcephaly Frequent [Orphanet] 832 / 7739
27
(HPO:0010049) Short metacarpal 99 / 7739
28
(HPO:0002553) Highly arched eyebrow Frequent [Orphanet] 92 / 7739
29
(HPO:0010761) Broad columella Frequent [Orphanet] 10 / 7739
30
(HPO:0002705) High, narrow palate Frequent [Orphanet] 308 / 7739
31
(HPO:0000256) Macrocephaly Occasional [Orphanet] 298 / 7739
32
(HPO:0200055) Small hand Frequent [Orphanet] 71 / 7739
33
(HPO:0000964) Eczema Frequent [Orphanet] 81 / 7739
34
(HPO:0000470) Short neck Occasional [Orphanet] 345 / 7739
35
(HPO:0000430) Underdeveloped nasal alae Frequent [Orphanet] 90 / 7739
36
(HPO:0004209) Clinodactyly of the 5th finger Frequent [Orphanet] 288 / 7739
37
(HPO:0001770) Toe syndactyly Frequent [Orphanet] 149 / 7739
38
(HPO:0001601) Laryngomalacia Occasional [Orphanet] 61 / 7739
39
(HPO:0001537) Umbilical hernia Frequent [Orphanet] 206 / 7739
40
(HPO:0002558) Supernumerary nipple Frequent [Orphanet] 40 / 7739
41
(HPO:0000954) Single transverse palmar crease Frequent [Orphanet] 162 / 7739
42
(HPO:0004322) Short stature Frequent [Orphanet] 1232 / 7739
43
(HPO:0001006) Hypotrichosis Frequent [Orphanet] 219 / 7739
44
(HPO:0002021) Pyloric stenosis Occasional [Orphanet] 51 / 7739
45
(HPO:0001382) Joint hypermobility Frequent [Orphanet] 231 / 7739
46
(HPO:0001249) Intellectual disability 1089 / 7739
47
(HPO:0001263) Global developmental delay 853 / 7739
48
(HPO:0000248) Brachycephaly 222 / 7739
49
(HPO:0000283) Broad face 12 / 7739
50
(HPO:0000455) Broad nasal tip 67 / 7739
51
(HPO:0000718) Aggressive behavior 109 / 7739
52
(HPO:0100716) Self-injurious behavior 43 / 7739
53
(HPO:0001163) Abnormality of the metacarpal bones Frequent [Orphanet] 149 / 7739
54
(HPO:0001265) Hyporeflexia 208 / 7739
55
(HPO:0001682) Subaortic stenosis rare [HPO:skoehler] 17 / 7739
56
(HPO:0001773) Short foot Frequent [Orphanet] 86 / 7739
57
(HPO:0001831) Short toe 52 / 7739
58
(HPO:0006101) Finger syndactyly Frequent [Orphanet] 198 / 7739
59
(HPO:0007021) Pain insensitivity 35 / 7739
60
(HPO:0010743) Short metatarsal 56 / 7739
61
(HPO:0011675) Arrhythmia rare [HPO:skoehler] 226 / 7739
62
(HPO:0100840) Aplasia/Hypoplasia of the eyebrow Frequent [Orphanet] 117 / 7739
63
(HPO:0000407) Sensorineural hearing impairment rare [HPO:skoehler] 524 / 7739
64
(HPO:0008527) Congenital sensorineural hearing impairment 165 / 7739
65
(HPO:0008625) Severe sensorineural hearing impairment 150 / 7739
66
(HPO:0005863) Type E brachydactyly 4 / 7739
67
(OMIM) Proximally placed fourth toe 1 / 7739
68
(HPO:0001327) Photomyoclonic seizures 125 / 7739
69
(OMIM) [DEL]Autistic features 43 / 7739
70
(OMIM) Repetitive behaviors 2 / 7739
71
(OMIM) Normal G(s)-alpha levels (139320) 1 / 7739
72
(HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
73
(HPO:0004404) Abnormality of the nipple Frequent [Orphanet] 54 / 7739
74
(HPO:0012303) Abnormality of the aortic arch Occasional [Orphanet] 57 / 7739
75
(HPO:0000107) Renal cyst Occasional [Orphanet] 126 / 7739
76
(HPO:0003220) Abnormality of chromosome stability Very frequent [Orphanet] 98 / 7739
77
(HPO:0000272) Malar flattening 277 / 7739
78
(HPO:0001428) Somatic mutation 100 / 7739
79
(HPO:0003577) Congenital onset 133 / 7739