Symptom Information: Sort according to HPO 

1
 (HPO:0009380) Aplasia of the fingers Very frequent [Orphanet] 51 / 7739
2
 (HPO:0002024) Malabsorption Frequent [Orphanet] 142 / 7739
3
 (HPO:0002007) Frontal bossing Very frequent [Orphanet] 366 / 7739
4
 (HPO:0000262) Turricephaly Very frequent [Orphanet] 38 / 7739
5
 (HPO:0004760) Congenital septal defect Occasional [Orphanet] 69 / 7739
6
 (HPO:0000160) Narrow mouth Frequent [Orphanet] 188 / 7739
7
 (HPO:0000193) Bifid uvula 66 / 7739
8
 (HPO:0003045) Abnormality of the patella Frequent [Orphanet] 33 / 7739
9
 (HPO:0000275) Narrow face Occasional [Orphanet] 76 / 7739
10
 (HPO:0001545) Anteriorly placed anus Frequent [Orphanet] 55 / 7739
11
 (HPO:0000405) Conductive hearing impairment Occasional [Orphanet] 164 / 7739
12
 (HPO:0000143) Rectovaginal fistula 18 / 7739
13
 (HPO:0002023) Anal atresia Occasional [Orphanet] 135 / 7739
14
 (HPO:0000316) Hypertelorism Occasional [Orphanet] 644 / 7739
15
 (HPO:0000347) Micrognathia 426 / 7739
16
 (HPO:0000520) Proptosis Very frequent [Orphanet] 192 / 7739
17
 (HPO:0000218) High palate 356 / 7739
18
 (HPO:0002705) High, narrow palate Frequent [Orphanet] 308 / 7739
19
 (HPO:0000239) Large fontanelles Very frequent [Orphanet] 135 / 7739
20
 (HPO:0000248) Brachycephaly Very frequent [Orphanet] 222 / 7739
21
 (HPO:0002650) Scoliosis Occasional [Orphanet] 705 / 7739
22
 (HPO:0000639) Nystagmus Occasional [Orphanet] 555 / 7739
23
 (HPO:0002818) Abnormality of the radius Very frequent [Orphanet] 96 / 7739
24
 (HPO:0002984) Hypoplasia of the radius 44 / 7739
25
 (HPO:0003974) Absent radius 26 / 7739
26
 (HPO:0003019) Abnormality of the wrist Frequent [Orphanet] 52 / 7739
27
 (HPO:0002665) Lymphoma Occasional [Orphanet] 60 / 7739
28
 (HPO:0000072) Hydroureter Occasional [Orphanet] 146 / 7739
29
 (HPO:0000426) Prominent nasal bridge Occasional [Orphanet] 121 / 7739
30
 (HPO:0100589) Urogenital fistula Occasional [Orphanet] 1 / 7739
31
 (HPO:0000076) Vesicoureteral reflux Occasional [Orphanet] 94 / 7739
32
 (HPO:0001029) Poikiloderma Occasional [Orphanet] 23 / 7739
33
 (HPO:0000337) Broad forehead Occasional [Orphanet] 116 / 7739
34
 (HPO:0006487) Bowing of the long bones Frequent [Orphanet] 95 / 7739
35
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
36
 (HPO:0001511) Intrauterine growth retardation Frequent [Orphanet] 358 / 7739
37
 (HPO:0000286) Epicanthus Occasional [Orphanet] 371 / 7739
38
 (HPO:0000601) Hypotelorism Occasional [Orphanet] 83 / 7739
39
 (HPO:0000446) Narrow nasal bridge Occasional [Orphanet] 29 / 7739
40
 (HPO:0009601) Aplasia/Hypoplasia of the thumb Very frequent [Orphanet] 80 / 7739
41
 (HPO:0000077) Abnormality of the kidney 73 / 7739
42
 (HPO:0000238) Hydrocephalus 278 / 7739
43
 (HPO:0000244) Brachyturricephaly 9 / 7739
44
 (HPO:0000368) Low-set, posteriorly rotated ears 38 / 7739
45
 (HPO:0000430) Underdeveloped nasal alae 90 / 7739
46
 (HPO:0000452) Choanal stenosis 23 / 7739
47
 (HPO:0000486) Strabismus 576 / 7739
48
 (HPO:0000494) Downslanted palpebral fissures 328 / 7739
49
 (HPO:0000545) Myopia 286 / 7739
50
 (HPO:0000648) Optic atrophy 238 / 7739
51
 (HPO:0000902) Rib fusion 19 / 7739
52
 (HPO:0001249) Intellectual disability 1089 / 7739
53
 (HPO:0001250) Seizures 1245 / 7739
54
 (HPO:0001274) Agenesis of corpus callosum 142 / 7739
55
 (HPO:0002126) Polymicrogyria 64 / 7739
56
 (HPO:0030680) Abnormality of cardiovascular system morphology 355 / 7739
57
 (HPO:0002996) Limited elbow movement 16 / 7739
58
 (HPO:0003022) Hypoplasia of the ulna 40 / 7739
59
 (HPO:0003031) Ulnar bowing 16 / 7739
60
 (HPO:0003065) Patellar hypoplasia 8 / 7739
61
 (HPO:0003298) Spina bifida occulta 67 / 7739
62
 (HPO:0003468) Abnormality of the vertebrae 77 / 7739
63
 (HPO:0004231) Carpal bone aplasia 5 / 7739
64
 (HPO:0004425) Flat forehead 6 / 7739
65
 (HPO:0004440) Coronal craniosynostosis 38 / 7739
66
 (HPO:0004442) Sagittal craniosynostosis 16 / 7739
67
 (HPO:0004443) Lambdoidal craniosynostosis 15 / 7739
68
 (HPO:0004871) Perineal fistula 1 / 7739
69
 (HPO:0005201) Anomalous splenoportal venous system 2 / 7739
70
 (HPO:0005792) Short humerus 34 / 7739
71
 (HPO:0005886) Aphalangy of the hands 2 / 7739
72
 (HPO:0006467) Limited shoulder movement 3 / 7739
73
 (HPO:0007452) Midface capillary hemangioma 4 / 7739
74
 (HPO:0009702) Carpal synostosis 26 / 7739
75
 (HPO:0009924) Aplasia/Hypoplasia involving the nose Frequent [Orphanet] 18 / 7739
76
 (HPO:0010048) Aplasia of metacarpal bones 6 / 7739
77
 (HPO:0010622) Neoplasm of the skeletal system Occasional [Orphanet] 30 / 7739
78
 (HPO:0100542) Abnormal localization of kidney Occasional [Orphanet] 64 / 7739
79
 (HPO:0001363) Craniosynostosis 132 / 7739
80
 (HPO:0011324) Multiple suture craniosynostosis 22 / 7739
81
 (OMIM) Absent or hypoplastic radii 1 / 7739
82
 (OMIM) Short, curved ulna 1 / 7739
83
 (OMIM) Absent carpals, metacarpals, and phalanges 1 / 7739
84
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
85
 (HPO:0000277) Abnormality of the mandible Occasional [Orphanet] 394 / 7739
86
 (HPO:0000174) Abnormality of the palate Occasional [Orphanet] 298 / 7739
87
 (HPO:0000069) Abnormality of the ureter Occasional [Orphanet] 47 / 7739
88
 (HPO:0001163) Abnormality of the metacarpal bones Frequent [Orphanet] 149 / 7739
89
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
90
 (HPO:0000175) Cleft palate 349 / 7739
91
 (HPO:0011318) Bicoronal synostosis 1 / 7739
92
 (HPO:0030680) Abnormality of cardiovascular system morphology 355 / 7739