Symptom Information: Sort according to HPO 

1
 (HPO:0002024) Malabsorption Very frequent [Orphanet] 142 / 7739
2
 (HPO:0002901) Hypocalcemia Occasional [Orphanet] 56 / 7739
3
 (HPO:0000369) Low-set ears 372 / 7739
4
 (HPO:0001760) Abnormality of the foot Occasional [Orphanet] 96 / 7739
5
 (HPO:0001999) Abnormal facial shape Very frequent [Orphanet] 169 / 7739
6
 (HPO:0000405) Conductive hearing impairment Occasional [Orphanet] 164 / 7739
7
 (HPO:0001789) Hydrops fetalis Occasional [Orphanet] 63 / 7739
8
 (HPO:0000212) Gingival overgrowth 43 / 7739
9
 (HPO:0000431) Wide nasal bridge 290 / 7739
10
 (HPO:0000445) Wide nose Very frequent [Orphanet] 190 / 7739
11
 (HPO:0002716) Lymphadenopathy Frequent [Orphanet] 129 / 7739
12
 (HPO:0100835) Benign neoplasm of the central nervous system Occasional [Orphanet] 12 / 7739
13
 (HPO:0006482) Abnormality of dental morphology Very frequent [Orphanet] 81 / 7739
14
 (HPO:0005280) Depressed nasal bridge Very frequent [Orphanet] 381 / 7739
15
 (HPO:0002103) Abnormality of the pleura Occasional [Orphanet] 58 / 7739
16
 (HPO:0002202) Pleural effusion 22 / 7739
17
 (HPO:0000501) Glaucoma Occasional [Orphanet] 180 / 7739
18
 (HPO:0011069) Increased number of teeth Very frequent [Orphanet] 39 / 7739
19
 (HPO:0001363) Craniosynostosis Occasional [Orphanet] 132 / 7739
20
 (HPO:0000085) Horseshoe kidney 39 / 7739
21
 (HPO:0000086) Ectopic kidney 29 / 7739
22
 (HPO:0100490) Camptodactyly of finger Occasional [Orphanet] 212 / 7739
23
 (HPO:0001250) Seizures Frequent [Orphanet] 1245 / 7739
24
 (HPO:0001055) Erysipelas Frequent [Orphanet] 6 / 7739
25
 (HPO:0001888) Lymphopenia Very frequent [Orphanet] 43 / 7739
26
 (HPO:0000356) Abnormality of the outer ear Very frequent [Orphanet] 85 / 7739
27
 (HPO:0100764) Lymphangioma Very frequent [Orphanet] 11 / 7739
28
 (HPO:0000160) Narrow mouth Occasional [Orphanet] 188 / 7739
29
 (HPO:0002093) Respiratory insufficiency Occasional [Orphanet] 410 / 7739
30
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
31
 (HPO:0000278) Retrognathia 100 / 7739
32
 (HPO:0000774) Narrow chest Frequent [Orphanet] 167 / 7739
33
 (HPO:0100026) Arteriovenous malformation Occasional [Orphanet] 38 / 7739
34
 (HPO:0000168) Abnormality of the gingiva Frequent [Orphanet] 51 / 7739
35
 (HPO:0000684) Delayed eruption of teeth Very frequent [Orphanet] 117 / 7739
36
 (HPO:0001541) Ascites Frequent [Orphanet] 94 / 7739
37
 (HPO:0002205) Recurrent respiratory infections Frequent [Orphanet] 254 / 7739
38
 (HPO:0001302) Pachygyria 60 / 7739
39
 (HPO:0002536) Abnormal cortical gyration Occasional [Orphanet] 72 / 7739
40
 (HPO:0000677) Oligodontia 41 / 7739
41
 (HPO:0001697) Abnormality of the pericardium Occasional [Orphanet] 52 / 7739
42
 (HPO:0001698) Pericardial effusion 20 / 7739
43
 (HPO:0001744) Splenomegaly Frequent [Orphanet] 337 / 7739
44
 (HPO:0000337) Broad forehead Frequent [Orphanet] 116 / 7739
45
 (HPO:0001004) Lymphedema Very frequent [Orphanet] 62 / 7739
46
 (HPO:0010554) Cutaneous finger syndactyly 39 / 7739
47
 (HPO:0000286) Epicanthus Frequent [Orphanet] 371 / 7739
48
 (HPO:0000322) Short philtrum Occasional [Orphanet] 130 / 7739
49
 (HPO:0002021) Pyloric stenosis Occasional [Orphanet] 51 / 7739
50
 (HPO:0001249) Intellectual disability 1089 / 7739
51
 (HPO:0012368) Flat face Very frequent [Orphanet] 106 / 7739
52
 (HPO:0000028) Cryptorchidism 347 / 7739
53
 (HPO:0000076) Vesicoureteral reflux 94 / 7739
54
 (HPO:0000126) Hydronephrosis 119 / 7739
55
 (HPO:0000189) Narrow palate 45 / 7739
56
 (HPO:0000319) Smooth philtrum 72 / 7739
57
 (HPO:0000407) Sensorineural hearing impairment 524 / 7739
58
 (HPO:0000752) Hyperactivity 140 / 7739
59
 (HPO:0000767) Pectus excavatum 244 / 7739
60
 (HPO:0001007) Hirsutism 91 / 7739
61
 (HPO:0001530) Mild postnatal growth retardation 7 / 7739
62
 (HPO:0001537) Umbilical hernia 206 / 7739
63
 (HPO:0001629) Ventricular septal defect 316 / 7739
64
 (HPO:0001631) Atria septal defect 274 / 7739
65
 (HPO:0001762) Talipes equinovarus 309 / 7739
66
 (HPO:0001773) Short foot 86 / 7739
67
 (HPO:0002035) Rectal prolapse 11 / 7739
68
 (HPO:0002243) Protein-losing enteropathy 8 / 7739
69
 (HPO:0002593) Intestinal lymphangiectasia 6 / 7739
70
 (HPO:0002650) Scoliosis 705 / 7739
71
 (HPO:0002750) Delayed skeletal maturation 250 / 7739
72
 (HPO:0002866) Hypoplastic iliac wing 34 / 7739
73
 (HPO:0003073) Hypoalbuminemia 40 / 7739
74
 (HPO:0003298) Spina bifida occulta 67 / 7739
75
 (HPO:0004279) Short palm 323 / 7739
76
 (HPO:0004440) Coronal craniosynostosis 38 / 7739
77
 (HPO:0005183) Pericardial lymphangiectasia 2 / 7739
78
 (HPO:0006101) Finger syndactyly Occasional [Orphanet] 198 / 7739
79
 (HPO:0006531) Pleural lymphangiectasia 1 / 7739
80
 (HPO:0007598) Bilateral single transverse palmar creases 13 / 7739
81
 (HPO:0008229) Thyroid lymphangiectasia 2 / 7739
82
 (HPO:0009473) Joint contracture of the hand 84 / 7739
83
 (HPO:0009804) Reduced number of teeth Very frequent [Orphanet] 137 / 7739
84
 (HPO:0011065) Conical incisor 5 / 7739
85
 (HPO:0012385) Camptodactyly 113 / 7739
86
 (HPO:0100539) Periorbital edema 8 / 7739
87
 (HPO:0100542) Abnormal localization of kidney Occasional [Orphanet] 64 / 7739
88
 (HPO:0200055) Small hand 71 / 7739
89
 (OMIM) Growth retardation, mild 2 / 7739
90
 (OMIM) Lymphedematous facies 1 / 7739
91
 (OMIM) Horizontal clavicles 1 / 7739
92
 (OMIM) Renal lymphangiectasia 1 / 7739
93
 (OMIM) Duplicated ureter 2 / 7739
94
 (HPO:0010621) Cutaneous syndactyly of toes 36 / 7739
95
 (OMIM) Bilateral single palmar creases 1 / 7739
96
 (OMIM) Focal parietal pachygyria 1 / 7739
97
 (OMIM) Hypoglobulinemia 1 / 7739
98
 (HPO:0000163) Abnormality of the oral cavity Frequent [Orphanet] 37 / 7739
99
 (HPO:0001522) Death in infancy Occasional [Orphanet] 275 / 7739
100
 (HPO:0010701) Abnormal immunoglobulin level Very frequent [Orphanet] 49 / 7739
101
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
102
 (HPO:0000277) Abnormality of the mandible Occasional [Orphanet] 394 / 7739
103
 (HPO:0008373) Puberty and gonadal disorders Frequent [Orphanet] 156 / 7739
104
 (HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 328 / 7739
105
 (HPO:0010978) Abnormality of immune system physiology Frequent [Orphanet] 148 / 7739
106
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
107
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
108
 (HPO:0000272) Malar flattening 277 / 7739