Symptom Information: Sort according to HPO 

1
 (HPO:0001387) Joint stiffness Frequent [Orphanet] 322 / 7739
2
 (HPO:0000457) Depressed nasal ridge Very frequent [Orphanet] 85 / 7739
3
 (HPO:0000252) Microcephaly Frequent [Orphanet] 832 / 7739
4
 (HPO:0000358) Posteriorly rotated ears 163 / 7739
5
 (HPO:0000369) Low-set ears 372 / 7739
6
 (HPO:0000356) Abnormality of the outer ear Very frequent [Orphanet] 85 / 7739
7
 (HPO:0000581) Blepharophimosis Very frequent [Orphanet] 197 / 7739
8
 (HPO:0002553) Highly arched eyebrow Very frequent [Orphanet] 92 / 7739
9
 (HPO:0009738) Abnormality of the antihelix Very frequent [Orphanet] 37 / 7739
10
 (HPO:0000431) Wide nasal bridge 290 / 7739
11
 (HPO:0000445) Wide nose Very frequent [Orphanet] 190 / 7739
12
 (HPO:0001852) Sandal gap Frequent [Orphanet] 63 / 7739
13
 (HPO:0000327) Hypoplasia of the maxilla Frequent [Orphanet] 129 / 7739
14
 (HPO:0100679) Lack of skin elasticity Very frequent [Orphanet] 29 / 7739
15
 (HPO:0000708) Behavioral abnormality Very frequent [Orphanet] 212 / 7739
16
 (HPO:0000653) Sparse eyelashes 58 / 7739
17
 (HPO:0006482) Abnormality of dental morphology Frequent [Orphanet] 81 / 7739
18
 (HPO:0009933) Narrow naris Occasional [Orphanet] 16 / 7739
19
 (HPO:0000028) Cryptorchidism 347 / 7739
20
 (HPO:0009553) Abnormality of the hairline Very frequent [Orphanet] 30 / 7739
21
 (HPO:0000470) Short neck Frequent [Orphanet] 345 / 7739
22
 (HPO:0000506) Telecanthus Very frequent [Orphanet] 156 / 7739
23
 (HPO:0001363) Craniosynostosis Occasional [Orphanet] 132 / 7739
24
 (HPO:0100490) Camptodactyly of finger Frequent [Orphanet] 212 / 7739
25
 (HPO:0001006) Hypotrichosis Occasional [Orphanet] 219 / 7739
26
 (HPO:0000535) Sparse and thin eyebrow 76 / 7739
27
 (HPO:0001263) Global developmental delay 853 / 7739
28
 (HPO:0000343) Long philtrum Very frequent [Orphanet] 262 / 7739
29
 (HPO:0000054) Micropenis 257 / 7739
30
 (HPO:0000066) Labial hypoplasia 10 / 7739
31
 (HPO:0000160) Narrow mouth 188 / 7739
32
 (HPO:0000164) Abnormality of the teeth 291 / 7739
33
 (HPO:0000218) High palate 356 / 7739
34
 (HPO:0000219) Thin upper lip vermilion 112 / 7739
35
 (HPO:0000278) Retrognathia 100 / 7739
36
 (HPO:0000294) Low anterior hairline 52 / 7739
37
 (HPO:0000298) Mask-like facies 44 / 7739
38
 (HPO:0000316) Hypertelorism 644 / 7739
39
 (HPO:0000319) Smooth philtrum 72 / 7739
40
 (HPO:0000341) Narrow forehead 96 / 7739
41
 (HPO:0000475) Broad neck 12 / 7739
42
 (HPO:0001182) Tapered finger 93 / 7739
43
 (HPO:0002007) Frontal bossing 366 / 7739
44
 (HPO:0002057) Prominent glabella 8 / 7739
45
 (HPO:0002236) Frontal upsweep of hair 8 / 7739
46
 (HPO:0002557) Hypoplastic nipples 33 / 7739
47
 (HPO:0003196) Short nose 264 / 7739
48
 (HPO:0004404) Abnormality of the nipple Frequent [Orphanet] 54 / 7739
49
 (HPO:0005280) Depressed nasal bridge 381 / 7739
50
 (HPO:0005484) Postnatal microcephaly 32 / 7739
51
 (HPO:0006101) Finger syndactyly Occasional [Orphanet] 198 / 7739
52
 (HPO:0008070) Sparse hair 94 / 7739
53
 (HPO:0009473) Joint contracture of the hand 84 / 7739
54
 (HPO:0012385) Camptodactyly 113 / 7739
55
 (HPO:0100810) Pointed helix Very frequent [Orphanet] 3 / 7739
56
 (HPO:0100840) Aplasia/Hypoplasia of the eyebrow Very frequent [Orphanet] 117 / 7739
57
 (OMIM) Expressionless facial appearance 1 / 7739
58
 (OMIM) Frontal bossing, mild 2 / 7739
59
 (OMIM) Long smooth philtrum 9 / 7739
60
 (OMIM) Abnormal ear configuration 1 / 7739
61
 (OMIM) Triangular-shaped ears 1 / 7739
62
 (OMIM) Prominent antihelices 1 / 7739
63
 (OMIM) Large, anteverted nasal tip 1 / 7739
64
 (OMIM) Long, everted upper lip 1 / 7739
65
 (OMIM) Curved incisors 1 / 7739
66
 (OMIM) Laterally displaced nipples 1 / 7739
67
 (HPO:0001371) Flexion contracture 220 / 7739
68
 (OMIM) Asymmetric skull 6 / 7739
69
 (MedDRA:10058668) Clinodactyly 91 / 7739
70
 (OMIM) Tight, glistening facial skin 1 / 7739
71
 (OMIM) Unruly hair 1 / 7739
72
 (OMIM) Misaligned eyebrows 1 / 7739
73
 (OMIM) [DEL] Happy demeanor 5 / 7739
74
 (HPO:0200040) Epidermoid cyst Very frequent [Orphanet] 35 / 7739
75
 (HPO:0008373) Puberty and gonadal disorders Frequent [Orphanet] 156 / 7739
76
 (HPO:0200102) Sparse or absent eyelashes Occasional [Orphanet] 64 / 7739
77
 (HPO:0000035) Abnormality of the testis Very frequent [Orphanet] 296 / 7739
78
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739
79
 (HPO:0000174) Abnormality of the palate Occasional [Orphanet] 298 / 7739
80
 (HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 328 / 7739
81
 (HPO:0003220) Abnormality of chromosome stability Very frequent [Orphanet] 98 / 7739
82
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
83
 (HPO:0003745) Sporadic 131 / 7739
84
 (HPO:0012745) Short palpebral fissure 47 / 7739
85
 (HPO:0030084) Clinodactyly 90 / 7739
86
 (HPO:0040082) Happy demeanor 6 / 7739