Symptom Information: Sort according to HPO 

1
 (HPO:0011304) Broad thumb 39 / 7739
2
 (HPO:0002664) Neoplasm Occasional [Orphanet] 111 / 7739
3
 (HPO:0000280) Coarse facial features Very frequent [Orphanet] 189 / 7739
4
 (HPO:0000158) Macroglossia Very frequent [Orphanet] 119 / 7739
5
 (HPO:0001252) Muscular hypotonia Occasional [Orphanet] 990 / 7739
6
 (HPO:0001324) Muscle weakness 859 / 7739
7
 (HPO:0000175) Cleft palate 349 / 7739
8
 (HPO:0002884) Hepatoblastoma Occasional [Orphanet] 11 / 7739
9
 (HPO:0000303) Mandibular prognathia Very frequent [Orphanet] 179 / 7739
10
 (HPO:0011675) Arrhythmia 226 / 7739
11
 (HPO:0001274) Agenesis of corpus callosum 142 / 7739
12
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Occasional [Orphanet] 180 / 7739
13
 (HPO:0000431) Wide nasal bridge 290 / 7739
14
 (HPO:0000445) Wide nose Frequent [Orphanet] 190 / 7739
15
 (HPO:0001769) Broad foot Very frequent [Orphanet] 31 / 7739
16
 (HPO:0000023) Inguinal hernia 181 / 7739
17
 (HPO:0001305) Dandy-Walker malformation Occasional [Orphanet] 79 / 7739
18
 (HPO:0030680) Abnormality of cardiovascular system morphology Frequent [Orphanet] 355 / 7739
19
 (HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
20
 (HPO:0000072) Hydroureter Frequent [Orphanet] 146 / 7739
21
 (HPO:0001561) Polyhydramnios Frequent [Orphanet] 191 / 7739
22
 (HPO:0000463) Anteverted nares Frequent [Orphanet] 305 / 7739
23
 (HPO:0001162) Postaxial hand polydactyly Very frequent [Orphanet] 119 / 7739
24
 (HPO:0003196) Short nose Frequent [Orphanet] 264 / 7739
25
 (HPO:0100490) Camptodactyly of finger Frequent [Orphanet] 212 / 7739
26
 (HPO:0000772) Abnormality of the ribs Very frequent [Orphanet] 146 / 7739
27
 (HPO:0003312) Abnormal form of the vertebral bodies Very frequent [Orphanet] 172 / 7739
28
 (HPO:0000113) Polycystic kidney dysplasia 75 / 7739
29
 (HPO:0000800) Cystic renal dysplasia 31 / 7739
30
 (HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
31
 (HPO:0002240) Hepatomegaly Very frequent [Orphanet] 467 / 7739
32
 (HPO:0001629) Ventricular septal defect Frequent [Orphanet] 316 / 7739
33
 (HPO:0000054) Micropenis Occasional [Orphanet] 257 / 7739
34
 (HPO:0000775) Abnormality of the diaphragm Occasional [Orphanet] 62 / 7739
35
 (HPO:0000776) Congenital diaphragmatic hernia 36 / 7739
36
 (HPO:0005616) Accelerated skeletal maturation Occasional [Orphanet] 46 / 7739
37
 (HPO:0000047) Hypospadias Occasional [Orphanet] 250 / 7739
38
 (HPO:0008714) Ureterovesical stenosis Frequent [Orphanet] 10 / 7739
39
 (HPO:0001539) Omphalocele Frequent [Orphanet] 102 / 7739
40
 (HPO:0002667) Nephroblastoma Occasional [Orphanet] 30 / 7739
41
 (HPO:0001762) Talipes equinovarus Occasional [Orphanet] 309 / 7739
42
 (HPO:0012090) Abnormality of pancreas morphology Occasional [Orphanet] 31 / 7739
43
 (HPO:0000767) Pectus excavatum Frequent [Orphanet] 244 / 7739
44
 (HPO:0010318) Aplasia/Hypoplasia of the abdominal wall musculature Frequent [Orphanet] 55 / 7739
45
 (HPO:0001631) Atria septal defect Frequent [Orphanet] 274 / 7739
46
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
47
 (HPO:0000465) Webbed neck Frequent [Orphanet] 81 / 7739
48
 (HPO:0000098) Tall stature Very frequent [Orphanet] 74 / 7739
49
 (HPO:0000494) Downslanted palpebral fissures Frequent [Orphanet] 328 / 7739
50
 (HPO:0001608) Abnormality of the voice Occasional [Orphanet] 126 / 7739
51
 (HPO:0002705) High, narrow palate Frequent [Orphanet] 308 / 7739
52
 (HPO:0000154) Wide mouth Very frequent [Orphanet] 137 / 7739
53
 (HPO:0000256) Macrocephaly Very frequent [Orphanet] 298 / 7739
54
 (HPO:0001385) Hip dysplasia Occasional [Orphanet] 242 / 7739
55
 (HPO:0000028) Cryptorchidism 347 / 7739
56
 (HPO:0000470) Short neck Frequent [Orphanet] 345 / 7739
57
 (HPO:0004209) Clinodactyly of the 5th finger Frequent [Orphanet] 288 / 7739
58
 (HPO:0000204) Cleft upper lip Occasional [Orphanet] 193 / 7739
59
 (HPO:0001770) Toe syndactyly Frequent [Orphanet] 149 / 7739
60
 (HPO:0001748) Polysplenia 14 / 7739
61
 (HPO:0001773) Short foot 86 / 7739
62
 (HPO:0001537) Umbilical hernia Frequent [Orphanet] 206 / 7739
63
 (HPO:0002558) Supernumerary nipple Very frequent [Orphanet] 40 / 7739
64
 (HPO:0001744) Splenomegaly Very frequent [Orphanet] 337 / 7739
65
 (HPO:0003006) Neuroblastoma Occasional [Orphanet] 16 / 7739
66
 (HPO:0000286) Epicanthus Occasional [Orphanet] 371 / 7739
67
 (HPO:0001943) Hypoglycemia Frequent [Orphanet] 131 / 7739
68
 (HPO:0000105) Enlarged kidneys 30 / 7739
69
 (HPO:0000107) Renal cyst Very frequent [Orphanet] 126 / 7739
70
 (HPO:0000216) Broad secondary alveolar ridge 3 / 7739
71
 (HPO:0000238) Hydrocephalus 278 / 7739
72
 (HPO:0000365) Hearing impairment 539 / 7739
73
 (HPO:0000384) Preauricular skin tag 62 / 7739
74
 (HPO:0000689) Dental malocclusion 114 / 7739
75
 (HPO:0000891) Cervical ribs 8 / 7739
76
 (HPO:0001169) Broad palm 43 / 7739
77
 (HPO:0001231) Abnormality of the fingernails Frequent [Orphanet] 116 / 7739
78
 (HPO:0001233) 2-3 finger syndactyly 7 / 7739
79
 (HPO:0001320) Cerebellar vermis hypoplasia 57 / 7739
80
 (HPO:0001540) Diastasis recti 23 / 7739
81
 (HPO:0001638) Cardiomyopathy Occasional [Orphanet] 192 / 7739
82
 (HPO:0001642) Pulmonic stenosis 89 / 7739
83
 (HPO:0001643) Patent ductus arteriosus 228 / 7739
84
 (HPO:0001669) Transposition of the great arteries 36 / 7739
85
 (HPO:0001792) Small nail 55 / 7739
86
 (HPO:0001837) Broad toe 13 / 7739
87
 (HPO:0002167) Neurological speech impairment Frequent [Orphanet] 308 / 7739
88
 (HPO:0002245) Meckel diverticulum 12 / 7739
89
 (HPO:0002566) Intestinal malrotation 89 / 7739
90
 (HPO:0002869) Flared iliac wings 20 / 7739
91
 (HPO:0003422) Vertebral segmentation defect 95 / 7739
92
 (HPO:0003517) Birth length greater than 97th percentile 4 / 7739
93
 (HPO:0004279) Short palm 323 / 7739
94
 (HPO:0004467) Preauricular pit 39 / 7739
95
 (HPO:0004510) Pancreatic islet-cell hyperplasia 9 / 7739
96
 (HPO:0005280) Depressed nasal bridge 381 / 7739
97
 (HPO:0005580) Duplication of renal pelvis 2 / 7739
98
 (HPO:0006101) Finger syndactyly Frequent [Orphanet] 198 / 7739
99
 (HPO:0006176) Two carpal ossification centers present at birth 1 / 7739
100
 (HPO:0002101) Abnormal lung lobation 33 / 7739
101
 (HPO:0008416) Six lumbar vertebrae 1 / 7739
102
 (HPO:0008803) Narrow sacroiliac notch 2 / 7739
103
 (HPO:0003185) Short sacroiliac notch 7 / 7739
104
 (HPO:0009101) Submucous cleft lip 1 / 7739
105
 (HPO:0009882) Short distal phalanx of finger 125 / 7739
106
 (HPO:0011039) Abnormality of the helix Frequent [Orphanet] 33 / 7739
107
 (OMIM) Birth weight greater than 97th percentile 1 / 7739
108
 (OMIM) Birth head circumference greater than 97th percentile 1 / 7739
109
 (OMIM) Midline groove of lower lip 1 / 7739
110
 (OMIM) 13 pairs of thoracic ribs 1 / 7739
111
 (OMIM) Fusion of C2-C3 posterior elements 1 / 7739
112
 (OMIM) Sacral defects 1 / 7739
113
 (OMIM) Coccygeal defects 1 / 7739
114
 (OMIM) Broad, short hands 14 / 7739
115
 (HPO:0100259) Postaxial polydactyly 85 / 7739
116
 (OMIM) Broad, short feet 8 / 7739
117
 (OMIM) Syndactyly 2nd-3rd toes 1 / 7739
118
 (OMIM) Coccygeal skin tags 1 / 7739
119
 (OMIM) Fingernail hypoplasia 1 / 7739
120
 (OMIM) Development varies from normal to retarded 1 / 7739
121
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
122
 (HPO:0010547) Muscle flaccidity 466 / 7739
123
 (HPO:0002898) Embryonal neoplasm 6 / 7739
124
 (OMIM) Nuchal translucency 2 / 7739
125
 (OMIM) Increased alpha-fetoprotein 5 / 7739
126
 (HPO:0001172) Abnormality of the thumb Frequent [Orphanet] 103 / 7739
127
 (HPO:0004299) Hernia of the abdominal wall Frequent [Orphanet] 176 / 7739
128
 (HPO:0006494) Aplasia/Hypoplasia involving bones of the feet Very frequent [Orphanet] 69 / 7739
129
 (HPO:0001522) Death in infancy Frequent [Orphanet] 275 / 7739
130
 (HPO:0012758) Neurodevelopmental delay Occasional [Orphanet] 949 / 7739
131
 (HPO:0001743) Abnormality of the spleen Occasional [Orphanet] 37 / 7739
132
 (HPO:0000035) Abnormality of the testis Very frequent [Orphanet] 296 / 7739
133
 (HPO:0000174) Abnormality of the palate Frequent [Orphanet] 298 / 7739
134
 (HPO:0011025) Abnormality of cardiovascular system physiology Frequent [Orphanet] 41 / 7739
135
 (HPO:0000357) Abnormal location of ears Frequent [Orphanet] 328 / 7739
136
 (HPO:0011420) Death Frequent [Orphanet] 184 / 7739
137
 (HPO:0001419) X-linked recessive inheritance 189 / 7739