Symptom Information: Sort according to HPO 

1
 (HPO:0002007) Frontal bossing Frequent [Orphanet] 366 / 7739
2
 (HPO:0000774) Narrow chest Very frequent [Orphanet] 167 / 7739
3
 (HPO:0200021) Down-sloping shoulders 18 / 7739
4
 (HPO:0000358) Posteriorly rotated ears 163 / 7739
5
 (HPO:0000276) Long face Very frequent [Orphanet] 109 / 7739
6
 (HPO:0000464) Abnormality of the neck Very frequent [Orphanet] 31 / 7739
7
 (HPO:0005599) Hypopigmentation of hair Occasional [Orphanet] 38 / 7739
8
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
9
 (HPO:0000189) Narrow palate 45 / 7739
10
 (HPO:0000218) High palate 356 / 7739
11
 (HPO:0002705) High, narrow palate Very frequent [Orphanet] 308 / 7739
12
 (HPO:0000582) Upslanted palpebral fissure Occasional [Orphanet] 185 / 7739
13
 (HPO:0000154) Wide mouth Very frequent [Orphanet] 137 / 7739
14
 (HPO:0000325) Triangular face Very frequent [Orphanet] 91 / 7739
15
 (HPO:0000248) Brachycephaly Frequent [Orphanet] 222 / 7739
16
 (HPO:0002208) Coarse hair Occasional [Orphanet] 58 / 7739
17
 (HPO:0000426) Prominent nasal bridge Frequent [Orphanet] 121 / 7739
18
 (HPO:0000506) Telecanthus Very frequent [Orphanet] 156 / 7739
19
 (HPO:0002002) Deep philtrum Very frequent [Orphanet] 42 / 7739
20
 (HPO:0004209) Clinodactyly of the 5th finger Very frequent [Orphanet] 288 / 7739
21
 (HPO:0000463) Anteverted nares Very frequent [Orphanet] 305 / 7739
22
 (HPO:0000232) Everted lower lip vermilion Very frequent [Orphanet] 90 / 7739
23
 (HPO:0003196) Short nose Very frequent [Orphanet] 264 / 7739
24
 (HPO:0000974) Hyperextensible skin Occasional [Orphanet] 59 / 7739
25
 (HPO:0000349) Widow's peak Occasional [Orphanet] 26 / 7739
26
 (HPO:0000049) Shawl scrotum Very frequent [Orphanet] 31 / 7739
27
 (HPO:0004322) Short stature Frequent [Orphanet] 1232 / 7739
28
 (HPO:0000637) Long palpebral fissure 21 / 7739
29
 (HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
30
 (HPO:0001382) Joint hypermobility Very frequent [Orphanet] 231 / 7739
31
 (HPO:0000689) Dental malocclusion Frequent [Orphanet] 114 / 7739
32
 (HPO:0000343) Long philtrum Very frequent [Orphanet] 262 / 7739
33
 (HPO:0000023) Inguinal hernia 181 / 7739
34
 (HPO:0000028) Cryptorchidism 347 / 7739
35
 (HPO:0000211) Trismus rare [HPO:skoehler] 9 / 7739
36
 (HPO:0000365) Hearing impairment rare [HPO:skoehler] 539 / 7739
37
 (HPO:0000472) Long neck 8 / 7739
38
 (HPO:0000494) Downslanted palpebral fissures 328 / 7739
39
 (HPO:0000767) Pectus excavatum 244 / 7739
40
 (HPO:0001159) Syndactyly 140 / 7739
41
 (HPO:0001169) Broad palm 43 / 7739
42
 (HPO:0001249) Intellectual disability rare [HPO:skoehler] 1089 / 7739
43
 (HPO:0001547) Abnormality of the rib cage 25 / 7739
44
 (HPO:0001773) Short foot Frequent [Orphanet] 86 / 7739
45
 (HPO:0001840) Metatarsus adductus 49 / 7739
46
 (HPO:0002948) Vertebral fusion rare [HPO:skoehler] 28 / 7739
47
 (HPO:0003508) Proportionate short stature 12 / 7739
48
 (HPO:0005639) Hyperextensible hand joints 3 / 7739
49
 (HPO:0006101) Finger syndactyly Very frequent [Orphanet] 198 / 7739
50
 (HPO:0008551) Microtia 98 / 7739
51
 (HPO:0012385) Camptodactyly 113 / 7739
52
 (OMIM) Long, deep philtrum 1 / 7739
53
 (OMIM) Abnormal auricles 4 / 7739
54
 (OMIM) Short, stubby nose 1 / 7739
55
 (OMIM) Pouting lower lip 1 / 7739
56
 (HPO:0000164) Abnormality of the teeth 291 / 7739
57
 (OMIM) Absent 12th rib (rare) 1 / 7739
58
 (OMIM) Frequent urination (rare) 1 / 7739
59
 (OMIM) Small, broad hands 1 / 7739
60
 (OMIM) Mild syndactyly 4 / 7739
61
 (OMIM) Interdigital webbing 1 / 7739
62
 (OMIM) Bulbous toes 1 / 7739
63
 (OMIM) Coarse, dry scalp hair 2 / 7739
64
 (OMIM) Hypopigmented scalp hair 1 / 7739
65
 (OMIM) Normal intelligence 81 / 7739
66
 (OMIM) Central facial nerve paralysis (rare) 1 / 7739
67
 (HPO:0012905) Euryblepharon Very frequent [Orphanet] 12 / 7739
68
 (HPO:0008544) Abnormally folded helix Frequent [Orphanet] 24 / 7739
69
 (HPO:0000277) Abnormality of the mandible Occasional [Orphanet] 394 / 7739
70
 (HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 328 / 7739
71
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739