Symptom Information: Sort according to HPO 

1
 (HPO:0002684) Thickened calvaria 32 / 7739
2
 (HPO:0004437) Cranial hyperostosis Frequent [Orphanet] 55 / 7739
3
 (HPO:0000572) Visual loss Frequent [Orphanet] 272 / 7739
4
 (HPO:0002007) Frontal bossing Occasional [Orphanet] 366 / 7739
5
 (HPO:0004327) Abnormality of the vitreous humor Frequent [Orphanet] 14 / 7739
6
 (HPO:0002688) Absent frontal sinuses 12 / 7739
7
 (HPO:0000215) Thick upper lip vermilion 17 / 7739
8
 (HPO:0000175) Cleft palate 349 / 7739
9
 (HPO:0002857) Genu valgum Frequent [Orphanet] 144 / 7739
10
 (HPO:0004370) Abnormality of temperature regulation Frequent [Orphanet] 58 / 7739
11
 (HPO:0000164) Abnormality of the teeth Very frequent [Orphanet] 291 / 7739
12
 (HPO:0000505) Visual impairment Frequent [Orphanet] 297 / 7739
13
 (HPO:0002758) Osteoarthritis Frequent [Orphanet] 78 / 7739
14
 (HPO:0000545) Myopia Very frequent [Orphanet] 286 / 7739
15
 (HPO:0000272) Malar flattening Very frequent [Orphanet] 277 / 7739
16
 (HPO:0000445) Wide nose Very frequent [Orphanet] 190 / 7739
17
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
18
 (HPO:0005059) Arthralgia/arthritis Very frequent [Orphanet] 141 / 7739
19
 (HPO:0000347) Micrognathia 426 / 7739
20
 (HPO:0000327) Hypoplasia of the maxilla Frequent [Orphanet] 129 / 7739
21
 (HPO:0000520) Proptosis Frequent [Orphanet] 192 / 7739
22
 (HPO:0002705) High, narrow palate Occasional [Orphanet] 308 / 7739
23
 (HPO:0005280) Depressed nasal bridge Very frequent [Orphanet] 381 / 7739
24
 (HPO:0000248) Brachycephaly Very frequent [Orphanet] 222 / 7739
25
 (HPO:0000639) Nystagmus Occasional [Orphanet] 555 / 7739
26
 (HPO:0000518) Cataract Very frequent [Orphanet] 454 / 7739
27
 (HPO:0000501) Glaucoma Frequent [Orphanet] 180 / 7739
28
 (HPO:0000463) Anteverted nares Very frequent [Orphanet] 305 / 7739
29
 (HPO:0000541) Retinal detachment Frequent [Orphanet] 87 / 7739
30
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
31
 (HPO:0001006) Hypotrichosis Frequent [Orphanet] 219 / 7739
32
 (HPO:0000486) Strabismus Occasional [Orphanet] 576 / 7739
33
 (HPO:0001083) Ectopia lentis Frequent [Orphanet] 45 / 7739
34
 (HPO:0002514) Cerebral calcification Frequent [Orphanet] 89 / 7739
35
 (HPO:0000407) Sensorineural hearing impairment Very frequent [Orphanet] 524 / 7739
36
 (HPO:0008527) Congenital sensorineural hearing impairment 165 / 7739
37
 (HPO:0008625) Severe sensorineural hearing impairment 150 / 7739
38
 (HPO:0010650) Hypoplasia of the premaxilla Very frequent [Orphanet] 39 / 7739
39
 (HPO:0012368) Flat face Very frequent [Orphanet] 106 / 7739
40
 (HPO:0000343) Long philtrum Very frequent [Orphanet] 262 / 7739
41
 (HPO:0000201) Pierre-Robin sequence 20 / 7739
42
 (HPO:0000286) Epicanthus 371 / 7739
43
 (HPO:0000369) Low-set ears 372 / 7739
44
 (HPO:0000519) Congenital cataract 73 / 7739
45
 (HPO:0000565) Esotropia 58 / 7739
46
 (HPO:0000655) Vitreoretinal degeneration 8 / 7739
47
 (HPO:0000675) Macrodontia of permanent maxillary central incisor 7 / 7739
48
 (HPO:0000926) Platyspondyly 150 / 7739
49
 (HPO:0000946) Hypoplastic ilia 21 / 7739
50
 (HPO:0002673) Coxa valga 57 / 7739
51
 (HPO:0002986) Radial bowing 27 / 7739
52
 (HPO:0003031) Ulnar bowing 16 / 7739
53
 (HPO:0003196) Short nose 264 / 7739
54
 (HPO:0005462) Calcification of falx cerebri 6 / 7739
55
 (HPO:0006095) Wide tufts of distal phalanges 1 / 7739
56
 (HPO:0006407) Irregular distal femoral epiphysis 2 / 7739
57
 (HPO:0006456) Irregular proximal tibial epiphyses 1 / 7739
58
 (HPO:0009924) Aplasia/Hypoplasia involving the nose Very frequent [Orphanet] 18 / 7739
59
 (HPO:0012019) Lens luxation 2 / 7739
60
 (HPO:0012283) Small distal femoral epiphysis 1 / 7739
61
 (HPO:0012284) Small proximal tibial epiphyses 1 / 7739
62
 (HPO:0100250) Meningeal calcification 1 / 7739
63
 (HPO:0100840) Aplasia/Hypoplasia of the eyebrow Occasional [Orphanet] 117 / 7739
64
 (OMIM) Short, depressed nose 1 / 7739
65
 (HPO:0012471) Thick vermilion border Very frequent [Orphanet] 115 / 7739
66
 (OMIM) Falx, tentorial, and meningeal calcifications 1 / 7739
67
 (OMIM) Mild platyspondyly 14 / 7739
68
 (OMIM) Small, irregular distal femoral epiphyses 1 / 7739
69
 (OMIM) Small, irregular proximal tibial epiphyses 1 / 7739
70
 (OMIM) Outward radial bowing 1 / 7739
71
 (OMIM) Outward ulnar bowing 1 / 7739
72
 (HPO:0000606) Abnormality of the periorbital region Occasional [Orphanet] 96 / 7739
73
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
74
 (HPO:0009119) Aplasia/Hypoplasia of the frontal sinuses Frequent [Orphanet] 6 / 7739
75
 (HPO:0000174) Abnormality of the palate Frequent [Orphanet] 298 / 7739
76
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
77
 (HPO:0000179) Thick lower lip vermilion 72 / 7739
78
 (HPO:0011800) Midface retrusion 221 / 7739