Symptom Information: Sort according to HPO 

1
 (HPO:0000572) Visual loss Frequent [Orphanet] 272 / 7739
2
 (HPO:0010719) Abnormality of hair texture Frequent [Orphanet] 24 / 7739
3
 (HPO:0002334) Abnormality of the cerebellar vermis Occasional [Orphanet] 137 / 7739
4
 (HPO:0000164) Abnormality of the teeth Very frequent [Orphanet] 291 / 7739
5
 (HPO:0000568) Microphthalmia 183 / 7739
6
 (HPO:0000272) Malar flattening Frequent [Orphanet] 277 / 7739
7
 (HPO:0000545) Myopia Occasional [Orphanet] 286 / 7739
8
 (HPO:0002779) Tracheomalacia Occasional [Orphanet] 26 / 7739
9
 (HPO:0003363) Abdominal situs inversus Occasional [Orphanet] 19 / 7739
10
 (HPO:0030680) Abnormality of cardiovascular system morphology Occasional [Orphanet] 355 / 7739
11
 (HPO:0000239) Large fontanelles Frequent [Orphanet] 135 / 7739
12
 (HPO:0002225) Sparse pubic hair Very frequent [Orphanet] 76 / 7739
13
 (HPO:0000639) Nystagmus Occasional [Orphanet] 555 / 7739
14
 (HPO:0000501) Glaucoma Occasional [Orphanet] 180 / 7739
15
 (HPO:0000506) Telecanthus Frequent [Orphanet] 156 / 7739
16
 (HPO:0011069) Increased number of teeth Frequent [Orphanet] 39 / 7739
17
 (HPO:0000772) Abnormality of the ribs Very frequent [Orphanet] 146 / 7739
18
 (HPO:0006660) Aplastic clavicles Very frequent [Orphanet] 70 / 7739
19
 (HPO:0004334) Dermal atrophy 34 / 7739
20
 (HPO:0002007) Frontal bossing Very frequent [Orphanet] 366 / 7739
21
 (HPO:0000252) Microcephaly Occasional [Orphanet] 832 / 7739
22
 (HPO:0000160) Narrow mouth Frequent [Orphanet] 188 / 7739
23
 (HPO:0000444) Convex nasal ridge Very frequent [Orphanet] 87 / 7739
24
 (HPO:0001596) Alopecia Very frequent [Orphanet] 162 / 7739
25
 (HPO:0002093) Respiratory insufficiency Occasional [Orphanet] 410 / 7739
26
 (HPO:0000347) Micrognathia 426 / 7739
27
 (HPO:0000695) Natal tooth Frequent [Orphanet] 42 / 7739
28
 (HPO:0000189) Narrow palate 45 / 7739
29
 (HPO:0000218) High palate 356 / 7739
30
 (HPO:0002705) High, narrow palate Frequent [Orphanet] 308 / 7739
31
 (HPO:0009933) Narrow naris Frequent [Orphanet] 16 / 7739
32
 (HPO:0000248) Brachycephaly Very frequent [Orphanet] 222 / 7739
33
 (HPO:0000028) Cryptorchidism 347 / 7739
34
 (HPO:0000162) Glossoptosis Frequent [Orphanet] 26 / 7739
35
 (HPO:0000518) Cataract Very frequent [Orphanet] 454 / 7739
36
 (HPO:0000929) Abnormality of the skull Occasional [Orphanet] 53 / 7739
37
 (HPO:0200055) Small hand Occasional [Orphanet] 71 / 7739
38
 (HPO:0000453) Choanal atresia Occasional [Orphanet] 76 / 7739
39
 (HPO:0000308) Microretrognathia Very frequent [Orphanet] 78 / 7739
40
 (HPO:0002659) Increased susceptibility to fractures Frequent [Orphanet] 110 / 7739
41
 (HPO:0004209) Clinodactyly of the 5th finger Occasional [Orphanet] 288 / 7739
42
 (HPO:0000821) Hypothyroidism Occasional [Orphanet] 141 / 7739
43
 (HPO:0001635) Congestive heart failure Occasional [Orphanet] 232 / 7739
44
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
45
 (HPO:0001006) Hypotrichosis Very frequent [Orphanet] 219 / 7739
46
 (HPO:0004528) Generalized hypotrichosis 18 / 7739
47
 (HPO:0000486) Strabismus Occasional [Orphanet] 576 / 7739
48
 (HPO:0001249) Intellectual disability 15% [HPO:probinson] 1089 / 7739
49
 (HPO:0000232) Everted lower lip vermilion 90 / 7739
50
 (HPO:0000233) Thin vermilion border 124 / 7739
51
 (HPO:0000242) Parietal bossing 11 / 7739
52
 (HPO:0000268) Dolichocephaly 144 / 7739
53
 (HPO:0000369) Low-set ears 372 / 7739
54
 (HPO:0000430) Underdeveloped nasal alae 90 / 7739
55
 (HPO:0000460) Narrow nose 14 / 7739
56
 (HPO:0000494) Downslanted palpebral fissures 328 / 7739
57
 (HPO:0000535) Sparse and thin eyebrow 76 / 7739
58
 (HPO:0000588) Optic nerve coloboma 27 / 7739
59
 (HPO:0000592) Blue sclerae 85 / 7739
60
 (HPO:0000567) Chorioretinal coloboma 26 / 7739
61
 (HPO:0000611) Choroid coloboma 12 / 7739
62
 (HPO:0000612) Iris coloboma 116 / 7739
63
 (HPO:0000653) Sparse eyelashes 58 / 7739
64
 (HPO:0000689) Dental malocclusion 114 / 7739
65
 (HPO:0000752) Hyperactivity 140 / 7739
66
 (HPO:0000767) Pectus excavatum 244 / 7739
67
 (HPO:0000883) Thin ribs 31 / 7739
68
 (HPO:0000958) Dry skin 152 / 7739
69
 (HPO:0001009) Telangiectasia 46 / 7739
70
 (HPO:0001155) Abnormality of the hand 54 / 7739
71
 (HPO:0001266) Choreoathetosis 57 / 7739
72
 (HPO:0001382) Joint hypermobility 231 / 7739
73
 (HPO:0001518) Small for gestational age 107 / 7739
74
 (HPO:0001592) Selective tooth agenesis 16 / 7739
75
 (HPO:0001739) Abnormality of the nasopharynx 16 / 7739
76
 (HPO:0001773) Short foot Occasional [Orphanet] 86 / 7739
77
 (HPO:0002069) Generalized tonic-clonic seizures 96 / 7739
78
 (HPO:0002092) Pulmonary hypertension 109 / 7739
79
 (HPO:0002205) Recurrent respiratory infections 254 / 7739
80
 (HPO:0002213) Fine hair 77 / 7739
81
 (HPO:0002414) Spina bifida 47 / 7739
82
 (HPO:0002645) Wormian bones 65 / 7739
83
 (HPO:0002650) Scoliosis 705 / 7739
84
 (HPO:0002691) Platybasia 10 / 7739
85
 (HPO:0002870) Obstructive sleep apnea 16 / 7739
86
 (HPO:0003016) Metaphyseal widening 41 / 7739
87
 (HPO:0003100) Slender long bone 45 / 7739
88
 (HPO:0003307) Hyperlordosis 122 / 7739
89
 (HPO:0003508) Proportionate short stature 12 / 7739
90
 (HPO:0004349) Reduced bone mineral density Very frequent [Orphanet] 165 / 7739
91
 (HPO:0004782) Hypotrichosis of the scalp 7 / 7739
92
 (HPO:0006532) Recurrent pneumonia 48 / 7739
93
 (HPO:0006611) Decreased number of sternal ossification centers 1 / 7739
94
 (HPO:0008056) Aplasia/Hypoplasia affecting the eye Very frequent [Orphanet] 142 / 7739
95
 (HPO:0008065) Aplasia/Hypoplasia of the skin Very frequent [Orphanet] 81 / 7739
96
 (HPO:0008070) Sparse hair 94 / 7739
97
 (HPO:0010539) Thin calvarium 2 / 7739
98
 (HPO:0100533) Inflammatory abnormality of the eye Occasional [Orphanet] 70 / 7739
99
 (OMIM) Average male height 155-157 cm 1 / 7739
100
 (OMIM) Average female height 152 cm 1 / 7739
101
 (OMIM) Optic disc coloboma 2 / 7739
102
 (OMIM) Thin, small pointed nose 1 / 7739
103
 (OMIM) Persistence of neonatal teeth 1 / 7739
104
 (OMIM) Delayed ossification of sutures 1 / 7739
105
 (OMIM) Shallow sella turcica 1 / 7739
106
 (OMIM) Absence of mandibular condyles 1 / 7739
107
 (OMIM) Winging of scapula 1 / 7739
108
 (OMIM) Thin, gracile metacarpals 1 / 7739
109
 (HPO:0000963) Thin skin 96 / 7739
110
 (OMIM) Thin, light hair 1 / 7739
111
 (HPO:0000163) Abnormality of the oral cavity Frequent [Orphanet] 37 / 7739
112
 (HPO:0000035) Abnormality of the testis Occasional [Orphanet] 296 / 7739
113
 (HPO:0000277) Abnormality of the mandible Frequent [Orphanet] 394 / 7739
114
 (HPO:0012758) Neurodevelopmental delay Occasional [Orphanet] 949 / 7739
115
 (HPO:0000606) Abnormality of the periorbital region Frequent [Orphanet] 96 / 7739
116
 (HPO:0001522) Death in infancy Occasional [Orphanet] 275 / 7739
117
 (HPO:0003745) Sporadic 131 / 7739