Symptom Information: Sort according to HPO 

1
 (HPO:0000219) Thin upper lip vermilion 112 / 7739
2
 (HPO:0000233) Thin vermilion border Very frequent [Orphanet] 124 / 7739
3
 (HPO:0002007) Frontal bossing Frequent [Orphanet] 366 / 7739
4
 (HPO:0011220) Prominent forehead 137 / 7739
5
 (HPO:0000280) Coarse facial features Frequent [Orphanet] 189 / 7739
6
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
7
 (HPO:0001324) Muscle weakness 859 / 7739
8
 (HPO:0004370) Abnormality of temperature regulation Very frequent [Orphanet] 58 / 7739
9
 (HPO:0002023) Anal atresia Occasional [Orphanet] 135 / 7739
10
 (HPO:0001315) Reduced tendon reflexes Very frequent [Orphanet] 160 / 7739
11
 (HPO:0000316) Hypertelorism Frequent [Orphanet] 644 / 7739
12
 (HPO:0004326) Cachexia Very frequent [Orphanet] 71 / 7739
13
 (HPO:0000582) Upslanted palpebral fissure Frequent [Orphanet] 185 / 7739
14
 (HPO:0000470) Short neck Very frequent [Orphanet] 345 / 7739
15
 (HPO:0000684) Delayed eruption of teeth Very frequent [Orphanet] 117 / 7739
16
 (HPO:0000506) Telecanthus Frequent [Orphanet] 156 / 7739
17
 (HPO:0000508) Ptosis Very frequent [Orphanet] 459 / 7739
18
 (HPO:0000463) Anteverted nares Frequent [Orphanet] 305 / 7739
19
 (HPO:0000232) Everted lower lip vermilion Very frequent [Orphanet] 90 / 7739
20
 (HPO:0003196) Short nose Frequent [Orphanet] 264 / 7739
21
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
22
 (HPO:0001006) Hypotrichosis Very frequent [Orphanet] 219 / 7739
23
 (HPO:0000486) Strabismus Occasional [Orphanet] 576 / 7739
24
 (HPO:0002714) Downturned corners of mouth Very frequent [Orphanet] 98 / 7739
25
 (HPO:0000535) Sparse and thin eyebrow 76 / 7739
26
 (HPO:0001382) Joint hypermobility Very frequent [Orphanet] 231 / 7739
27
 (HPO:0002750) Delayed skeletal maturation Very frequent [Orphanet] 250 / 7739
28
 (HPO:0000343) Long philtrum Very frequent [Orphanet] 262 / 7739
29
 (HPO:0000023) Inguinal hernia 181 / 7739
30
 (HPO:0000028) Cryptorchidism 347 / 7739
31
 (HPO:0000047) Hypospadias 250 / 7739
32
 (HPO:0000059) Hypoplastic labia majora 22 / 7739
33
 (HPO:0000107) Renal cyst 126 / 7739
34
 (HPO:0000110) Renal dysplasia 44 / 7739
35
 (HPO:0000113) Polycystic kidney dysplasia 75 / 7739
36
 (HPO:0000151) Aplasia of the uterus 12 / 7739
37
 (HPO:0000158) Macroglossia 119 / 7739
38
 (HPO:0000175) Cleft palate 349 / 7739
39
 (HPO:0000193) Bifid uvula 66 / 7739
40
 (HPO:0000256) Macrocephaly 298 / 7739
41
 (HPO:0000286) Epicanthus 371 / 7739
42
 (HPO:0000293) Full cheeks 85 / 7739
43
 (HPO:0000347) Micrognathia 426 / 7739
44
 (HPO:0000365) Hearing impairment 539 / 7739
45
 (HPO:0000400) Macrotia 108 / 7739
46
 (HPO:0000402) Stenosis of the external auditory canal 22 / 7739
47
 (HPO:0000431) Wide nasal bridge 290 / 7739
48
 (HPO:0000465) Webbed neck 81 / 7739
49
 (HPO:0000518) Cataract 454 / 7739
50
 (HPO:0000520) Proptosis 192 / 7739
51
 (HPO:0000653) Sparse eyelashes 58 / 7739
52
 (HPO:0000776) Congenital diaphragmatic hernia 36 / 7739
53
 (HPO:0000954) Single transverse palmar crease 162 / 7739
54
 (HPO:0001162) Postaxial hand polydactyly 119 / 7739
55
 (HPO:0001169) Broad palm 43 / 7739
56
 (HPO:0001250) Seizures 1245 / 7739
57
 (HPO:0001276) Hypertonia 317 / 7739
58
 (HPO:0001371) Flexion contracture 220 / 7739
59
 (HPO:0001374) Congenital hip dislocation 51 / 7739
60
 (HPO:0001513) Obesity 172 / 7739
61
 (HPO:0001537) Umbilical hernia 206 / 7739
62
 (HPO:0001539) Omphalocele 102 / 7739
63
 (HPO:0001545) Anteriorly placed anus 55 / 7739
64
 (HPO:0001629) Ventricular septal defect 316 / 7739
65
 (HPO:0001631) Atria septal defect 274 / 7739
66
 (HPO:0001639) Hypertrophic cardiomyopathy 137 / 7739
67
 (HPO:0001643) Patent ductus arteriosus 228 / 7739
68
 (HPO:0001650) Aortic valve stenosis 49 / 7739
69
 (HPO:0001680) Coarctation of aorta 57 / 7739
70
 (HPO:0001769) Broad foot 31 / 7739
71
 (HPO:0001830) Postaxial foot polydactyly 37 / 7739
72
 (HPO:0001831) Short toe 52 / 7739
73
 (HPO:0002025) Anal stenosis 23 / 7739
74
 (HPO:0002089) Pulmonary hypoplasia 80 / 7739
75
 (HPO:0002187) Intellectual disability, profound 44 / 7739
76
 (HPO:0002558) Supernumerary nipple 40 / 7739
77
 (HPO:0002566) Intestinal malrotation 89 / 7739
78
 (HPO:0002751) Kyphoscoliosis 131 / 7739
79
 (HPO:0003027) Mesomelia 58 / 7739
80
 (HPO:0004209) Clinodactyly of the 5th finger 288 / 7739
81
 (HPO:0004768) Sparse anterior scalp hair 1 / 7739
82
 (HPO:0005026) Mesomelic/rhizomelic limb shortening 2 / 7739
83
 (HPO:0005280) Depressed nasal bridge 381 / 7739
84
 (HPO:0005484) Postnatal microcephaly 32 / 7739
85
 (HPO:0007535) Hypopigmented streaks 1 / 7739
86
 (HPO:0007572) Hyperpigmented streaks 2 / 7739
87
 (HPO:0008905) Rhizomelia 85 / 7739
88
 (HPO:0009803) Short phalanx of finger 79 / 7739
89
 (HPO:0100736) Abnormality of the soft palate Occasional [Orphanet] 6 / 7739
90
 (HPO:0100840) Aplasia/Hypoplasia of the eyebrow Very frequent [Orphanet] 117 / 7739
91
 (OMIM) Normal to increased birth length 1 / 7739
92
 (OMIM) Postnatal deceleration of length 1 / 7739
93
 (OMIM) Normal to increased birth weight 1 / 7739
94
 (OMIM) Normal to increased head circumference 1 / 7739
95
 (OMIM) Coarse facial features over time 1 / 7739
96
 (OMIM) Protruding lobules 1 / 7739
97
 (OMIM) Broad, flat nasal root 4 / 7739
98
 (OMIM) 'Cupid-bow' lip 1 / 7739
99
 (OMIM) Prominent lateral palatine ridge 2 / 7739
100
 (OMIM) Pericardial agenesis 1 / 7739
101
 (OMIM) Persistence of urogenital sinus/cloaca 1 / 7739
102
 (OMIM) Small scrotum 2 / 7739
103
 (OMIM) Absent upper vagina 1 / 7739
104
 (HPO:0000800) Cystic renal dysplasia 31 / 7739
105
 (OMIM) Sacral appendage 1 / 7739
106
 (OMIM) Hypermobile joints 3 / 7739
107
 (OMIM) Contractures develop with age 1 / 7739
108
 (OMIM) Distal digital hypoplasia 1 / 7739
109
 (HPO:0100259) Postaxial polydactyly 85 / 7739
110
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
111
 (HPO:0010547) Muscle flaccidity 466 / 7739
112
 (OMIM) Mosaic tetrasomy 12p in skin fibroblasts 1 / 7739
113
 (OMIM) Isochromosome often missing in lymphocyte 1 / 7739
114
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
115
 (HPO:0000159) Abnormality of the lip Very frequent [Orphanet] 33 / 7739
116
 (HPO:0001442) Somatic mosaicism 7 / 7739
117
 (HPO:0003826) Stillbirth 40 / 7739
118
 (HPO:0030276) Small scrotum 2 / 7739