Symptom Information: Sort according to HPO 

1
 (HPO:0000130) Abnormality of the uterus Frequent [Orphanet] 86 / 7739
2
 (HPO:0002334) Abnormality of the cerebellar vermis Occasional [Orphanet] 137 / 7739
3
 (HPO:0001252) Muscular hypotonia Frequent [Orphanet] 990 / 7739
4
 (HPO:0000612) Iris coloboma Very frequent [Orphanet] 85.0000 % [HPO] 116 / 7739
5
 (HPO:0000717) Autism Frequent [Orphanet] 108 / 7739
6
 (HPO:0000625) Cleft eyelid Occasional [Orphanet] 31 / 7739
7
 (HPO:0000528) Anophthalmia 85.0000 % [HPO] 42 / 7739
8
 (HPO:0000568) Microphthalmia 183 / 7739
9
 (HPO:0000272) Malar flattening Occasional [Orphanet] 277 / 7739
10
 (HPO:0000445) Wide nose Frequent [Orphanet] 190 / 7739
11
 (HPO:0001305) Dandy-Walker malformation Occasional [Orphanet] 79 / 7739
12
 (HPO:0002992) Abnormality of the tibia Occasional [Orphanet] 51 / 7739
13
 (HPO:0030680) Abnormality of cardiovascular system morphology Frequent [Orphanet] 355 / 7739
14
 (HPO:0011390) Morphological abnormality of the inner ear Very frequent [Orphanet] 21 / 7739
15
 (HPO:0002650) Scoliosis Occasional [Orphanet] 7.5000 % [HPO] 705 / 7739
16
 (HPO:0000639) Nystagmus Frequent [Orphanet] 555 / 7739
17
 (HPO:0010751) Chin dimple Frequent [Orphanet] 16 / 7739
18
 (HPO:0000072) Hydroureter Occasional [Orphanet] 146 / 7739
19
 (HPO:0000126) Hydronephrosis 119 / 7739
20
 (HPO:0000722) Obsessive-compulsive behavior Frequent [Orphanet] 35 / 7739
21
 (HPO:0000048) Bifid scrotum Frequent [Orphanet] 36 / 7739
22
 (HPO:0001561) Polyhydramnios Frequent [Orphanet] 191 / 7739
23
 (HPO:0002032) Esophageal atresia 19 / 7739
24
 (HPO:0002575) Tracheoesophageal fistula Occasional [Orphanet] 7.5000 % [HPO] 54 / 7739
25
 (HPO:0000921) Missing ribs Occasional [Orphanet] 62 / 7739
26
 (HPO:0010628) Facial palsy Occasional [Orphanet] 146 / 7739
27
 (HPO:0000752) Hyperactivity Frequent [Orphanet] 140 / 7739
28
 (HPO:0000076) Vesicoureteral reflux Occasional [Orphanet] 94 / 7739
29
 (HPO:0000085) Horseshoe kidney 39 / 7739
30
 (HPO:0001511) Intrauterine growth retardation Occasional [Orphanet] 358 / 7739
31
 (HPO:0000834) Abnormality of the adrenal glands Occasional [Orphanet] 14 / 7739
32
 (HPO:0000054) Micropenis Very frequent [Orphanet] 257 / 7739
33
 (HPO:0004279) Short palm Occasional [Orphanet] 323 / 7739
34
 (HPO:0001643) Patent ductus arteriosus Frequent [Orphanet] 228 / 7739
35
 (HPO:0011968) Feeding difficulties 240 / 7739
36
 (HPO:0002410) Aqueductal stenosis Occasional [Orphanet] 19 / 7739
37
 (HPO:0000252) Microcephaly Occasional [Orphanet] 7.5000 % [HPO] 832 / 7739
38
 (HPO:0000160) Narrow mouth Frequent [Orphanet] 188 / 7739
39
 (HPO:0000356) Abnormality of the outer ear Very frequent [Orphanet] 85 / 7739
40
 (HPO:0002553) Highly arched eyebrow Occasional [Orphanet] 92 / 7739
41
 (HPO:0001762) Talipes equinovarus Occasional [Orphanet] 309 / 7739
42
 (HPO:0000275) Narrow face Frequent [Orphanet] 76 / 7739
43
 (HPO:0002093) Respiratory insufficiency Occasional [Orphanet] 410 / 7739
44
 (HPO:0000316) Hypertelorism Occasional [Orphanet] 7.5000 % [HPO] 644 / 7739
45
 (HPO:0000202) Oral cleft Frequent [Orphanet] 120 / 7739
46
 (HPO:0002937) Hemivertebrae 7.5000 % [HPO] 41 / 7739
47
 (HPO:0000028) Cryptorchidism 347 / 7739
48
 (HPO:0001636) Tetralogy of Fallot Frequent [Orphanet] 104 / 7739
49
 (HPO:0000924) Abnormality of the skeletal system Occasional [Orphanet] 114 / 7739
50
 (HPO:0000453) Choanal atresia Frequent [Orphanet] 76 / 7739
51
 (HPO:0002823) Abnormality of the femur Occasional [Orphanet] 61 / 7739
52
 (HPO:0010443) Bifid femur rare [HPO:skoehler] 2 / 7739
53
 (HPO:0006824) Cranial nerve paralysis Occasional [Orphanet] 81 / 7739
54
 (HPO:0000365) Hearing impairment Very frequent [Orphanet] 539 / 7739
55
 (HPO:0000684) Delayed eruption of teeth Frequent [Orphanet] 117 / 7739
56
 (HPO:0000823) Delayed puberty 65 / 7739
57
 (HPO:0004209) Clinodactyly of the 5th finger Occasional [Orphanet] 288 / 7739
58
 (HPO:0001601) Laryngomalacia Occasional [Orphanet] 61 / 7739
59
 (HPO:0008551) Microtia 90.0000 % [HPO] 98 / 7739
60
 (HPO:0000458) Anosmia 49 / 7739
61
 (HPO:0002139) Arrhinencephaly 25.0000 % [HPO] 13 / 7739
62
 (HPO:0011331) Hemifacial atrophy Frequent [Orphanet] 79 / 7739
63
 (HPO:0002015) Dysphagia Very frequent [Orphanet] 301 / 7739
64
 (HPO:0000384) Preauricular skin tag Occasional [Orphanet] 62 / 7739
65
 (HPO:0000486) Strabismus Frequent [Orphanet] 576 / 7739
66
 (HPO:0000286) Epicanthus Occasional [Orphanet] 371 / 7739
67
 (HPO:0001249) Intellectual disability 100.0000 % [HPO] 1089 / 7739
68
 (HPO:0000632) Lacrimation abnormality Occasional [Orphanet] 42 / 7739
69
 (HPO:0000480) Retinal coloboma 85.0000 % [HPO] 16 / 7739
70
 (HPO:0000044) Hypogonadotrophic hypogonadism 25.0000 % [HPO] 56 / 7739
71
 (HPO:0000066) Labial hypoplasia 10 / 7739
72
 (HPO:0000089) Renal hypoplasia 7.5000 % [HPO] 78 / 7739
73
 (HPO:0000104) Renal agenesis 7.5000 % [HPO] 68 / 7739
74
 (HPO:0000175) Cleft palate 7.5000 % [HPO] 349 / 7739
75
 (HPO:0000204) Cleft upper lip 7.5000 % [HPO] 193 / 7739
76
 (HPO:0000321) Square face 4 / 7739
77
 (HPO:0000324) Facial asymmetry 57 / 7739
78
 (HPO:0000347) Micrognathia 7.5000 % [HPO] 426 / 7739
79
 (HPO:0000378) Cupped ear 90.0000 % [HPO] 34 / 7739
80
 (HPO:0000394) Lop ear 90.0000 % [HPO] 6 / 7739
81
 (HPO:0000410) Mixed hearing impairment 90.0000 % [HPO] 22 / 7739
82
 (HPO:0000465) Webbed neck 7.5000 % [HPO] 81 / 7739
83
 (HPO:0000494) Downslanted palpebral fissures 328 / 7739
84
 (HPO:0000508) Ptosis 7.5000 % [HPO] 459 / 7739
85
 (HPO:0000772) Abnormality of the ribs 7.5000 % [HPO] 146 / 7739
86
 (HPO:0000821) Hypothyroidism 141 / 7739
87
 (HPO:0000824) Growth hormone deficiency 7.5000 % [HPO] 56 / 7739
88
 (HPO:0000860) Parathyroid hypoplasia 3 / 7739
89
 (HPO:0001018) Abnormal palmar dermatoglyphics 7.5000 % [HPO] 4 / 7739
90
 (HPO:0001161) Hand polydactyly 7.5000 % [HPO] 71 / 7739
91
 (HPO:0001537) Umbilical hernia Occasional [Orphanet] 206 / 7739
92
 (HPO:0001539) Omphalocele 7.5000 % [HPO] 102 / 7739
93
 (HPO:0001629) Ventricular septal defect Very frequent [Orphanet] 316 / 7739
94
 (HPO:0001631) Atria septal defect 274 / 7739
95
 (HPO:0001642) Pulmonic stenosis 89 / 7739
96
 (HPO:0001719) Double outlet right ventricle 12 / 7739
97
 (HPO:0001888) Lymphopenia 43 / 7739
98
 (HPO:0002023) Anal atresia 7.5000 % [HPO] 135 / 7739
99
 (HPO:0002025) Anal stenosis 7.5000 % [HPO] 23 / 7739
100
 (HPO:0002247) Duodenal atresia 13 / 7739
101
 (HPO:0002901) Hypocalcemia 56 / 7739
102
 (HPO:0003022) Hypoplasia of the ulna rare [HPO:skoehler] 40 / 7739
103
 (HPO:0006495) Aplasia/Hypoplasia of the ulna 7 / 7739
104
 (HPO:0003422) Vertebral segmentation defect Occasional [Orphanet] 95 / 7739
105
 (HPO:0003974) Absent radius rare [HPO:skoehler] 26 / 7739
106
 (HPO:0004058) Hand monodactyly rare [HPO:skoehler] 8 / 7739
107
 (HPO:0004404) Abnormality of the nipple 7.5000 % [HPO] 54 / 7739
108
 (HPO:0004408) Abnormality of the sense of smell Frequent [Orphanet] 28 / 7739
109
 (HPO:0004496) Posterior choanal atresia 1 / 7739
110
 (HPO:0008213) Gonadotropin deficiency 6 / 7739
111
 (HPO:0008897) Postnatal growth retardation 113 / 7739
112
 (HPO:0009778) Short thumb 7.5000 % [HPO] 50 / 7739
113
 (HPO:0009906) Aplasia/Hypoplasia of the earlobes Very frequent [Orphanet] 41 / 7739
114
 (HPO:0010515) Aplasia/Hypoplasia of the thymus 17 / 7739
115
 (HPO:0100542) Abnormal localization of kidney Occasional [Orphanet] 64 / 7739
116
 (HPO:0100736) Abnormality of the soft palate Frequent [Orphanet] 6 / 7739
117
 (HPO:0200021) Down-sloping shoulders 7.5000 % [HPO] 18 / 7739
118
 (OMIM) Mondini defect 1 / 7739
119
 (OMIM) Hypoplastic semicircular canals 1 / 7739
120
 (HPO:0000589) Coloboma 47 / 7739
121
 (OMIM) Chewing/swallowing difficulties 3 / 7739
122
 (HPO:0200054) Foot monodactyly 6 / 7739
123
 (OMIM) Tibial aplasia (some) 1 / 7739
124
 (OMIM) Mental retardation, variable severity 2 / 7739
125
 (OMIM) Intellectual function may be high in milder cases 1 / 7739
126
 (OMIM) Balance disturbances 1 / 7739
127
 (HPO:0001291) Abnormality of the cranial nerves Frequent [Orphanet] 27 / 7739
128
 (OMIM) [DEL]Autistic features 43 / 7739
129
 (OMIM) T cell defect, mild to severe 1 / 7739
130
 (OMIM) Humoral defect (in some) 1 / 7739
131
 (HPO:0008544) Abnormally folded helix Very frequent [Orphanet] 24 / 7739
132
 (HPO:0000774) Narrow chest Occasional [Orphanet] 167 / 7739
133
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
134
 (HPO:0100716) Self-injurious behavior Occasional [Orphanet] 43 / 7739
135
 (HPO:0001231) Abnormality of the fingernails Occasional [Orphanet] 116 / 7739
136
 (HPO:0000246) Sinusitis Frequent [Orphanet] 73 / 7739
137
 (HPO:0000357) Abnormal location of ears Frequent [Orphanet] 328 / 7739
138
 (HPO:0009804) Reduced number of teeth Occasional [Orphanet] 137 / 7739
139
 (HPO:0010978) Abnormality of immune system physiology Occasional [Orphanet] 148 / 7739
140
 (HPO:0001385) Hip dysplasia Occasional [Orphanet] 242 / 7739
141
 (HPO:0000505) Visual impairment Very frequent [Orphanet] 297 / 7739
142
 (HPO:0012795) Abnormality of the optic disc Very frequent [Orphanet] 187 / 7739
143
 (HPO:0000035) Abnormality of the testis Frequent [Orphanet] 296 / 7739
144
 (HPO:0001199) Triphalangeal thumb Occasional [Orphanet] 56 / 7739
145
 (HPO:0000864) Abnormality of the hypothalamus-pituitary axis Occasional [Orphanet] 23 / 7739
146
 (HPO:0012303) Abnormality of the aortic arch Frequent [Orphanet] 57 / 7739
147
 (HPO:0012639) Abnormality of nervous system morphology Frequent [Orphanet] 25 / 7739
148
 (HPO:0002167) Neurological speech impairment Frequent [Orphanet] 308 / 7739
149
 (HPO:0000479) Abnormality of the retina Very frequent [Orphanet] 74 / 7739
150
 (HPO:0001522) Death in infancy Occasional [Orphanet] 275 / 7739
151
 (HPO:0001382) Joint hypermobility Occasional [Orphanet] 231 / 7739
152
 (HPO:0010761) Broad columella Frequent [Orphanet] 10 / 7739
153
 (HPO:0001177) Preaxial hand polydactyly Occasional [Orphanet] 59 / 7739
154
 (HPO:0008373) Puberty and gonadal disorders Frequent [Orphanet] 156 / 7739
155
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739
156
 (HPO:0040075) Hypopituitarism Frequent [Orphanet] 32 / 7739
157
 (HPO:0000588) Optic nerve coloboma Very frequent [Orphanet] 27 / 7739
158
 (HPO:0002066) Gait ataxia Very frequent [Orphanet] 327 / 7739
159
 (HPO:0100720) Hypoplasia of the ear cartilage Very frequent [Orphanet] 12 / 7739
160
 (HPO:0004060) Trident hand Occasional [Orphanet] 13 / 7739
161
 (HPO:0005352) Severe T-cell immunodeficiency Occasional [Orphanet] 20 / 7739
162
 (HPO:0000488) Retinopathy Frequent [Orphanet] 75 / 7739
163
 (HPO:0000315) Abnormality of the orbital region Frequent [Orphanet] 18 / 7739
164
 (HPO:0012443) Abnormality of brain morphology Occasional [Orphanet] 45 / 7739
165
 (HPO:0011001) Increased bone mineral density Occasional [Orphanet] 78 / 7739
166
 (HPO:0012815) Hypoplastic female external genitalia Frequent [Orphanet] 36 / 7739
167
 (HPO:0009738) Abnormality of the antihelix Very frequent [Orphanet] 37 / 7739
168
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Occasional [Orphanet] 180 / 7739
169
 (HPO:0000572) Visual loss Occasional [Orphanet] 272 / 7739
170
 (HPO:0000501) Glaucoma Frequent [Orphanet] 180 / 7739
171
 (HPO:0006191) Deep palmar crease Occasional [Orphanet] 16 / 7739
172
 (HPO:0000389) Chronic otitis media Frequent [Orphanet] 64 / 7739
173
 (HPO:0000708) Behavioral abnormality Frequent [Orphanet] 212 / 7739
174
 (HPO:0000541) Retinal detachment Frequent [Orphanet] 87 / 7739
175
 (HPO:0011039) Abnormality of the helix Very frequent [Orphanet] 33 / 7739
176
 (HPO:0000689) Dental malocclusion Occasional [Orphanet] 114 / 7739
177
 (HPO:0001863) Toe clinodactyly Occasional [Orphanet] 12 / 7739
178
 (HPO:0400004) Long ear Very frequent [Orphanet] 94 / 7739
179
 (HPO:0000682) Abnormality of dental enamel Occasional [Orphanet] 102 / 7739
180
 (HPO:0008772) Aplasia/Hypoplasia of the external ear Occasional [Orphanet] 67 / 7739
181
 (HPO:0002577) Abnormality of the stomach Frequent [Orphanet] 84 / 7739
182
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
183
 (HPO:0001171) Split hand 7.5000 % [HPO] 72 / 7739
184
 (HPO:0003745) Sporadic 131 / 7739
185
 (HPO:0003812) Phenotypic variability 129 / 7739