Symptom Information: Sort according to HPO 

1
 (HPO:0000992) Cutaneous photosensitivity Frequent [Orphanet] 75 / 7739
2
 (HPO:0002020) Gastroesophageal reflux 101 / 7739
3
 (HPO:0001602) Laryngeal stenosis Frequent [Orphanet] 21 / 7739
4
 (HPO:0010880) Increased nuchal translucency Very frequent [Orphanet] 13 / 7739
5
 (HPO:0005599) Hypopigmentation of hair Occasional [Orphanet] 38 / 7739
6
 (HPO:0001276) Hypertonia Occasional [Orphanet] 317 / 7739
7
 (HPO:0000089) Renal hypoplasia 78 / 7739
8
 (HPO:0000104) Renal agenesis 68 / 7739
9
 (HPO:0030680) Abnormality of cardiovascular system morphology Frequent [Orphanet] 355 / 7739
10
 (HPO:0002650) Scoliosis Occasional [Orphanet] 705 / 7739
11
 (HPO:0000639) Nystagmus Occasional [Orphanet] 10807690 IBIS 555 / 7739
12
 (HPO:0002818) Abnormality of the radius Occasional [Orphanet] 96 / 7739
13
 (HPO:0001561) Polyhydramnios Frequent [Orphanet] 191 / 7739
14
 (HPO:0000113) Polycystic kidney dysplasia 75 / 7739
15
 (HPO:0000800) Cystic renal dysplasia 31 / 7739
16
 (HPO:0002251) Aganglionic megacolon Occasional [Orphanet] 9024558 IBIS 78 / 7739
17
 (HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
18
 (HPO:0000718) Aggressive behavior 109 / 7739
19
 (HPO:0000742) Self-mutilation 27 / 7739
20
 (HPO:0100716) Self-injurious behavior Frequent [Orphanet] 43 / 7739
21
 (HPO:0001629) Ventricular septal defect Frequent [Orphanet] 316 / 7739
22
 (HPO:0001643) Patent ductus arteriosus Occasional [Orphanet] 228 / 7739
23
 (HPO:0000343) Long philtrum Frequent [Orphanet] 262 / 7739
24
 (HPO:0001508) Failure to thrive 10807690 IBIS 454 / 7739
25
 (HPO:0009380) Aplasia of the fingers Occasional [Orphanet] 51 / 7739
26
 (HPO:0001762) Talipes equinovarus Occasional [Orphanet] 309 / 7739
27
 (HPO:0001840) Metatarsus adductus 49 / 7739
28
 (HPO:0000347) Micrognathia 426 / 7739
29
 (HPO:0000154) Wide mouth Frequent [Orphanet] 137 / 7739
30
 (HPO:0001385) Hip dysplasia Frequent [Orphanet] 242 / 7739
31
 (HPO:0002827) Hip dislocation 94 / 7739
32
 (HPO:0000028) Cryptorchidism 9024558 IBIS 347 / 7739
33
 (HPO:0000518) Cataract Occasional [Orphanet] 10807690 IBIS 454 / 7739
34
 (HPO:0000470) Short neck Frequent [Orphanet] 345 / 7739
35
 (HPO:0000508) Ptosis Frequent [Orphanet] 10807690 IBIS 459 / 7739
36
 (HPO:0000171) Microglossia Occasional [Orphanet] 27 / 7739
37
 (HPO:0001770) Toe syndactyly Very frequent [Orphanet] 149 / 7739
38
 (HPO:0000062) Ambiguous genitalia Frequent [Orphanet] 9024558 IBIS 74 / 7739
39
 (HPO:0009465) Ulnar deviation of finger Occasional [Orphanet] 48 / 7739
40
 (HPO:0000486) Strabismus Occasional [Orphanet] 10807690 IBIS 576 / 7739
41
 (HPO:0010297) Bifid tongue Occasional [Orphanet] 17 / 7739
42
 (HPO:0000407) Sensorineural hearing impairment Occasional [Orphanet] 524 / 7739
43
 (HPO:0002021) Pyloric stenosis Occasional [Orphanet] 10807690 IBIS 51 / 7739
44
 (HPO:0002334) Abnormality of the cerebellar vermis Frequent [Orphanet] 137 / 7739
45
 (HPO:0002089) Pulmonary hypoplasia 80 / 7739
46
 (HPO:0005264) Abnormality of the gallbladder Occasional [Orphanet] 14 / 7739
47
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
48
 (HPO:0001324) Muscle weakness 859 / 7739
49
 (HPO:0000717) Autism Frequent [Orphanet] 108 / 7739
50
 (HPO:0000612) Iris coloboma Occasional [Orphanet] 116 / 7739
51
 (HPO:0000358) Posteriorly rotated ears 163 / 7739
52
 (HPO:0000369) Low-set ears 372 / 7739
53
 (HPO:0000175) Cleft palate 10807690 IBIS 349 / 7739
54
 (HPO:0001052) Nevus flammeus Frequent [Orphanet] 88 / 7739
55
 (HPO:0002079) Hypoplasia of the corpus callosum 161 / 7739
56
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Occasional [Orphanet] 180 / 7739
57
 (HPO:0000431) Wide nasal bridge 290 / 7739
58
 (HPO:0000445) Wide nose Very frequent [Orphanet] 190 / 7739
59
 (HPO:0002777) Tracheal stenosis Frequent [Orphanet] 35 / 7739
60
 (HPO:0003027) Mesomelia Occasional [Orphanet] 58 / 7739
61
 (HPO:0006482) Abnormality of dental morphology Very frequent [Orphanet] 81 / 7739
62
 (HPO:0000582) Upslanted palpebral fissure Occasional [Orphanet] 185 / 7739
63
 (HPO:0000072) Hydroureter Occasional [Orphanet] 146 / 7739
64
 (HPO:0000074) Ureteropelvic junction obstruction 15 / 7739
65
 (HPO:0000126) Hydronephrosis 119 / 7739
66
 (HPO:0000752) Hyperactivity Frequent [Orphanet] 140 / 7739
67
 (HPO:0000501) Glaucoma Occasional [Orphanet] 180 / 7739
68
 (HPO:0011069) Increased number of teeth Occasional [Orphanet] 39 / 7739
69
 (HPO:0000463) Anteverted nares Very frequent [Orphanet] 10807690 IBIS 305 / 7739
70
 (HPO:0001162) Postaxial hand polydactyly Frequent [Orphanet] 10807690 IBIS 119 / 7739
71
 (HPO:0000772) Abnormality of the ribs Occasional [Orphanet] 146 / 7739
72
 (HPO:0003312) Abnormal form of the vertebral bodies Occasional [Orphanet] 172 / 7739
73
 (HPO:0001830) Postaxial foot polydactyly Frequent [Orphanet] 10807690 IBIS 37 / 7739
74
 (HPO:0001511) Intrauterine growth retardation Frequent [Orphanet] 358 / 7739
75
 (HPO:0000054) Micropenis Frequent [Orphanet] 9024558 IBIS 257 / 7739
76
 (HPO:0002360) Sleep disturbance Frequent [Orphanet] 113 / 7739
77
 (HPO:0004279) Short palm Occasional [Orphanet] 323 / 7739
78
 (HPO:0000775) Abnormality of the diaphragm Occasional [Orphanet] 62 / 7739
79
 (HPO:0000965) Cutis marmorata Frequent [Orphanet] 46 / 7739
80
 (HPO:0002119) Ventriculomegaly Frequent [Orphanet] 253 / 7739
81
 (HPO:0007477) Abnormal dermatoglyphics Very frequent [Orphanet] 72 / 7739
82
 (HPO:0000047) Hypospadias Frequent [Orphanet] 9024558 IBIS 250 / 7739
83
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 10807690 IBIS 832 / 7739
84
 (HPO:0000647) Sclerocornea Occasional [Orphanet] 25 / 7739
85
 (HPO:0001631) Atria septal defect Frequent [Orphanet] 274 / 7739
86
 (HPO:0003119) Abnormality of lipid metabolism Very frequent [Orphanet] 60 / 7739
87
 (HPO:0000316) Hypertelorism Occasional [Orphanet] 644 / 7739
88
 (HPO:0000695) Natal tooth Occasional [Orphanet] 42 / 7739
89
 (HPO:0000494) Downslanted palpebral fissures Occasional [Orphanet] 328 / 7739
90
 (HPO:0000520) Proptosis Occasional [Orphanet] 192 / 7739
91
 (HPO:0002705) High, narrow palate Very frequent [Orphanet] 308 / 7739
92
 (HPO:0000453) Choanal atresia Occasional [Orphanet] 76 / 7739
93
 (HPO:0002808) Kyphosis Occasional [Orphanet] 289 / 7739
94
 (HPO:0002101) Abnormal lung lobation Frequent [Orphanet] 10807690 IBIS 33 / 7739
95
 (HPO:0000682) Abnormality of dental enamel Occasional [Orphanet] 102 / 7739
96
 (HPO:0004322) Short stature Very frequent [Orphanet] 10807690 IBIS 1232 / 7739
97
 (HPO:0006695) Atrioventricular canal defect Frequent [Orphanet] 27 / 7739
98
 (HPO:0000286) Epicanthus Occasional [Orphanet] 371 / 7739
99
 (HPO:0009623) Proximal placement of thumb Frequent [Orphanet] 9678700 IBIS 50 / 7739
100
 (HPO:0000341) Narrow forehead Frequent [Orphanet] 96 / 7739
101
 (HPO:0000046) Scrotal hypoplasia 9024558 IBIS 54 / 7739
102
 (HPO:0000048) Bifid scrotum 9024558 IBIS 36 / 7739
103
 (HPO:0000069) Abnormality of the ureter Occasional [Orphanet] 47 / 7739
104
 (HPO:0000107) Renal cyst Occasional [Orphanet] 126 / 7739
105
 (HPO:0000187) Broad alveolar ridges 14 / 7739
106
 (HPO:0000238) Hydrocephalus 278 / 7739
107
 (HPO:0000365) Hearing impairment 539 / 7739
108
 (HPO:0000403) Recurrent otitis media 61 / 7739
109
 (HPO:0000499) Abnormality of the eyelashes Occasional [Orphanet] 35 / 7739
110
 (HPO:0000678) Dental crowding 65 / 7739
111
 (HPO:0000813) Bicornuate uterus 22 / 7739
112
 (HPO:0000826) Precocious puberty 42 / 7739
113
 (HPO:0000964) Eczema 81 / 7739
114
 (HPO:0000996) Facial capillary hemangioma 4 / 7739
115
 (HPO:0001153) Septate vagina 6 / 7739
116
 (HPO:0001163) Abnormality of the metacarpal bones Frequent [Orphanet] 149 / 7739
117
 (HPO:0001249) Intellectual disability 10807690 IBIS 1089 / 7739
118
 (HPO:0001290) Generalized hypotonia 51 / 7739
119
 (HPO:0001305) Dandy-Walker malformation 79 / 7739
120
 (HPO:0001558) Decreased fetal movement 74 / 7739
121
 (HPO:0001622) Premature birth 100 / 7739
122
 (HPO:0001623) Breech presentation 16 / 7739
123
 (HPO:0001680) Coarctation of aorta 9024558 IBIS 57 / 7739
124
 (HPO:0001743) Abnormality of the spleen Occasional [Orphanet] 37 / 7739
125
 (HPO:0001765) Hammertoe 63 / 7739
126
 (HPO:0001831) Short toe 52 / 7739
127
 (HPO:0001845) Overlapping toe 18 / 7739
128
 (HPO:0001884) Talipes calcaneovalgus 14 / 7739
129
 (HPO:0002013) Vomiting 10807690 IBIS 191 / 7739
130
 (HPO:0002019) Constipation 194 / 7739
131
 (HPO:0002033) Poor suck 37 / 7739
132
 (HPO:0002566) Intestinal malrotation 89 / 7739
133
 (HPO:0002579) Gastrointestinal dysmotility 11 / 7739
134
 (HPO:0002611) Cholestatic liver disease 19 / 7739
135
 (HPO:0003146) Hypocholesterolemia 9 / 7739
136
 (HPO:0004404) Abnormality of the nipple Frequent [Orphanet] 54 / 7739
137
 (HPO:0004691) 2-3 toe syndactyly 50 / 7739
138
 (HPO:0005280) Depressed nasal bridge 381 / 7739
139
 (HPO:0006101) Finger syndactyly Occasional [Orphanet] 198 / 7739
140
 (HPO:0006703) Aplasia/Hypoplasia of the lungs Frequent [Orphanet] 79 / 7739
141
 (HPO:0006979) Sleep-wake cycle disturbance 5 / 7739
142
 (HPO:0007165) Periventricular gray matter heterotopia 4 / 7739
143
 (HPO:0007333) Hypoplasia of the frontal lobes 5 / 7739
144
 (HPO:0007537) Severe photosensitivity 2 / 7739
145
 (HPO:0008056) Aplasia/Hypoplasia affecting the eye Occasional [Orphanet] 142 / 7739
146
 (HPO:0008678) Renal hypoplasia/aplasia Occasional [Orphanet] 127 / 7739
147
 (HPO:0009778) Short thumb 9678700 IBIS 50 / 7739
148
 (HPO:0009804) Reduced number of teeth Occasional [Orphanet] 137 / 7739
149
 (HPO:0010569) Elevated 7-dehydrocholesterol 1 / 7739
150
 (HPO:0010655) Epiphyseal stippling 32 / 7739
151
 (HPO:0010978) Abnormality of immune system physiology Frequent [Orphanet] 148 / 7739
152
 (HPO:0100542) Abnormal localization of kidney Occasional [Orphanet] 64 / 7739
153
 (OMIM) Birth weight <2,500gm 2 / 7739
154
 (OMIM) Large central front teeth 1 / 7739
155
 (OMIM) Incomplete lobulation of the lungs 1 / 7739
156
 (OMIM) Microurethra 1 / 7739
157
 (OMIM) Single kidney 2 / 7739
158
 (HPO:0009815) Aplasia/hypoplasia of the extremities 6 / 7739
159
 (HPO:0100259) Postaxial polydactyly 85 / 7739
160
 (OMIM) Broad, short toes 3 / 7739
161
 (OMIM) Blonde hair 1 / 7739
162
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
163
 (HPO:0010547) Muscle flaccidity 466 / 7739
164
 (OMIM) Periventricular gray matter heterotopias 1 / 7739
165
 (OMIM) Abnormal sleep pattern 2 / 7739
166
 (OMIM) Shrill screaming 1 / 7739
167
 (OMIM) Low cholesterol 1 / 7739
168
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
169
 (HPO:0000174) Abnormality of the palate Frequent [Orphanet] 298 / 7739
170
 (HPO:0011420) Death Occasional [Orphanet] 184 / 7739
171
 (HPO:0000168) Abnormality of the gingiva Frequent [Orphanet] 51 / 7739
172
 (HPO:0012443) Abnormality of brain morphology Occasional [Orphanet] 45 / 7739
173
 (HPO:0000035) Abnormality of the testis Frequent [Orphanet] 296 / 7739
174
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
175
 (HPO:0008905) Rhizomelia Occasional [Orphanet] 85 / 7739
176
 (HPO:0012815) Hypoplastic female external genitalia Frequent [Orphanet] 36 / 7739
177
 (HPO:0012795) Abnormality of the optic disc Occasional [Orphanet] 187 / 7739
178
 (HPO:0002577) Abnormality of the stomach Very frequent [Orphanet] 84 / 7739
179
 (HPO:0000357) Abnormal location of ears Frequent [Orphanet] 328 / 7739
180
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
181
 (HPO:0001360) Holoprosencephaly 29 / 7739
182
 (HPO:0002983) Micromelia 130 / 7739
183
 (HPO:0030043) Hip Subluxation 9 / 7739