Symptom Information: Sort according to HPO 

1
 (HPO:0002334) Abnormality of the cerebellar vermis Occasional [Orphanet] 137 / 7739
2
 (HPO:0005264) Abnormality of the gallbladder Occasional [Orphanet] 14 / 7739
3
 (HPO:0001519) Disproportionate tall stature Occasional [Orphanet] 39 / 7739
4
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
5
 (HPO:0001324) Muscle weakness 859 / 7739
6
 (HPO:0000612) Iris coloboma Frequent [Orphanet] 30% [HPO] 116 / 7739
7
 (HPO:0004760) Congenital septal defect Frequent [Orphanet] 69 / 7739
8
 (HPO:0001760) Abnormality of the foot Frequent [Orphanet] 96 / 7739
9
 (HPO:0001844) Abnormality of the hallux Frequent [Orphanet] 3 / 7739
10
 (HPO:0000175) Cleft palate 349 / 7739
11
 (HPO:0001155) Abnormality of the hand Frequent [Orphanet] 54 / 7739
12
 (HPO:0001052) Nevus flammeus Frequent [Orphanet] 88 / 7739
13
 (HPO:0001274) Agenesis of corpus callosum occasional [HPO] 142 / 7739
14
 (HPO:0001331) Absent septum pellucidum 16 / 7739
15
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Occasional [Orphanet] 180 / 7739
16
 (HPO:0000431) Wide nasal bridge typical [HPO] 290 / 7739
17
 (HPO:0000445) Wide nose Very frequent [Orphanet] 190 / 7739
18
 (HPO:0000765) Abnormality of the thorax Frequent [Orphanet] 64 / 7739
19
 (HPO:0003363) Abdominal situs inversus Occasional [Orphanet] 19 / 7739
20
 (HPO:0002066) Gait ataxia Very frequent [Orphanet] 327 / 7739
21
 (HPO:0030680) Abnormality of cardiovascular system morphology Frequent [Orphanet] 355 / 7739
22
 (HPO:0002650) Scoliosis Frequent [Orphanet] frequent [HPO] 705 / 7739
23
 (HPO:0000639) Nystagmus Occasional [Orphanet] typical [HPO] 555 / 7739
24
 (HPO:0001362) Calvarial skull defect Frequent [Orphanet] 22 / 7739
25
 (HPO:0001557) Prenatal movement abnormality Very frequent [Orphanet] 16 / 7739
26
 (HPO:0001558) Decreased fetal movement 74 / 7739
27
 (HPO:0000348) High forehead Very frequent [Orphanet] typical [HPO] 157 / 7739
28
 (HPO:0001654) Abnormality of the heart valves Frequent [Orphanet] 49 / 7739
29
 (HPO:0000921) Missing ribs Frequent [Orphanet] 62 / 7739
30
 (HPO:0003312) Abnormal form of the vertebral bodies Frequent [Orphanet] frequent [HPO] 20301362 IBIS 172 / 7739
31
 (HPO:0006709) Aplasia/Hypoplasia of the nipples Occasional [Orphanet] 28 / 7739
32
 (HPO:0001250) Seizures Very frequent [Orphanet] common [HPO] 1245 / 7739
33
 (HPO:0002715) Abnormality of the immune system Occasional [Orphanet] 46 / 7739
34
 (HPO:0001511) Intrauterine growth retardation Very frequent [Orphanet] hallmark [HPO] 358 / 7739
35
 (HPO:0011302) Long palm Frequent [Orphanet] 70 / 7739
36
 (HPO:0002714) Downturned corners of mouth Very frequent [Orphanet] typical [HPO] 98 / 7739
37
 (HPO:0000775) Abnormality of the diaphragm Frequent [Orphanet] 62 / 7739
38
 (HPO:0003468) Abnormality of the vertebrae Frequent [Orphanet] 77 / 7739
39
 (HPO:0009601) Aplasia/Hypoplasia of the thumb Frequent [Orphanet] 80 / 7739
40
 (HPO:0000047) Hypospadias Very frequent [Orphanet] 50% [HPO] 250 / 7739
41
 (HPO:0001508) Failure to thrive common [HPO] 454 / 7739
42
 (HPO:0002007) Frontal bossing Very frequent [Orphanet] 366 / 7739
43
 (HPO:0000252) Microcephaly Very frequent [Orphanet] typical [HPO] 832 / 7739
44
 (HPO:0000268) Dolichocephaly Very frequent [Orphanet] 144 / 7739
45
 (HPO:0000153) Abnormality of the mouth Very frequent [Orphanet] 60 / 7739
46
 (HPO:0000647) Sclerocornea Occasional [Orphanet] 25 / 7739
47
 (HPO:0002553) Highly arched eyebrow Very frequent [Orphanet] typical [HPO] 92 / 7739
48
 (HPO:0001762) Talipes equinovarus Frequent [Orphanet] frequent [HPO] 309 / 7739
49
 (HPO:0001840) Metatarsus adductus 49 / 7739
50
 (HPO:0000960) Sacral dimple rare [HPO] 29 / 7739
51
 (HPO:0010769) Pilonidal sinus Frequent [Orphanet] 35 / 7739
52
 (HPO:0001631) Atria septal defect Frequent [Orphanet] 27% [HPO] 274 / 7739
53
 (HPO:0000485) Megalocornea Occasional [Orphanet] 26 / 7739
54
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] typical [HPO] 644 / 7739
55
 (HPO:0000347) Micrognathia typical [HPO] 426 / 7739
56
 (HPO:0000202) Oral cleft Frequent [Orphanet] 120 / 7739
57
 (HPO:0000494) Downslanted palpebral fissures Very frequent [Orphanet] 328 / 7739
58
 (HPO:0000520) Proptosis Occasional [Orphanet] frequent [HPO] 192 / 7739
59
 (HPO:0004299) Hernia of the abdominal wall Occasional [Orphanet] 176 / 7739
60
 (HPO:0000028) Cryptorchidism 50% [HPO] 347 / 7739
61
 (HPO:0002205) Recurrent respiratory infections Occasional [Orphanet] 254 / 7739
62
 (HPO:0000365) Hearing impairment Frequent [Orphanet] 539 / 7739
63
 (HPO:0000389) Chronic otitis media Occasional [Orphanet] 64 / 7739
64
 (HPO:0000488) Retinopathy Occasional [Orphanet] 75 / 7739
65
 (HPO:0000508) Ptosis Frequent [Orphanet] common [HPO] 459 / 7739
66
 (HPO:0002808) Kyphosis Frequent [Orphanet] frequent [HPO] 289 / 7739
67
 (HPO:0000668) Hypodontia typical [HPO] 81 / 7739
68
 (HPO:0000349) Widow's peak Very frequent [Orphanet] 26 / 7739
69
 (HPO:0000486) Strabismus Occasional [Orphanet] typical [HPO] 576 / 7739
70
 (HPO:0009611) Bifid distal phalanx of the thumb Frequent [Orphanet] 15 / 7739
71
 (HPO:0000286) Epicanthus Very frequent [Orphanet] typical [HPO] 371 / 7739
72
 (HPO:0000322) Short philtrum Very frequent [Orphanet] typical [HPO] 130 / 7739
73
 (HPO:0100022) Abnormality of movement Occasional [Orphanet] 129 / 7739
74
 (HPO:0002750) Delayed skeletal maturation Frequent [Orphanet] 250 / 7739
75
 (HPO:0001263) Global developmental delay hallmark [HPO] 853 / 7739
76
 (HPO:0000077) Abnormality of the kidney Frequent [Orphanet] 73 / 7739
77
 (HPO:0000151) Aplasia of the uterus rare [HPO] 12 / 7739
78
 (HPO:0000188) Short upper lip typical [HPO] 8 / 7739
79
 (HPO:0000204) Cleft upper lip 193 / 7739
80
 (HPO:0000238) Hydrocephalus rare [HPO] 278 / 7739
81
 (HPO:0000377) Abnormality of the pinna typical [HPO] 111 / 7739
82
 (HPO:0000384) Preauricular skin tag typical [HPO] 62 / 7739
83
 (HPO:0000402) Stenosis of the external auditory canal typical [HPO] 22 / 7739
84
 (HPO:0000405) Conductive hearing impairment 40% [HPO] 164 / 7739
85
 (HPO:0000407) Sensorineural hearing impairment 15% [HPO] 524 / 7739
86
 (HPO:0000444) Convex nasal ridge typical [HPO] 87 / 7739
87
 (HPO:0000465) Webbed neck rare [HPO] 81 / 7739
88
 (HPO:0000558) Rieger anomaly typical [HPO] 5 / 7739
89
 (HPO:0000733) Stereotypy frequent [HPO] 58 / 7739
90
 (HPO:0000826) Precocious puberty 42 / 7739
91
 (HPO:0000902) Rib fusion frequent [HPO] 19 / 7739
92
 (HPO:0000954) Single transverse palmar crease rare [HPO] 162 / 7739
93
 (HPO:0001028) Hemangioma frequent [HPO] 23 / 7739
94
 (HPO:0001080) Biliary tract abnormality rare [HPO] 26 / 7739
95
 (HPO:0001171) Split hand occasional [HPO] 72 / 7739
96
 (HPO:0001290) Generalized hypotonia hallmark [HPO] 51 / 7739
97
 (HPO:0001385) Hip dysplasia occasional [HPO] 242 / 7739
98
 (HPO:0001518) Small for gestational age hallmark [HPO] 107 / 7739
99
 (HPO:0001629) Ventricular septal defect 316 / 7739
100
 (HPO:0001747) Accessory spleen 8 / 7739
101
 (HPO:0001812) Hyperconvex fingernails 3 / 7739
102
 (HPO:0001841) Preaxial foot polydactyly occasional [HPO] 24 / 7739
103
 (HPO:0002020) Gastroesophageal reflux 101 / 7739
104
 (HPO:0002057) Prominent glabella typical [HPO] 8 / 7739
105
 (HPO:0002119) Ventriculomegaly 253 / 7739
106
 (HPO:0002144) Tethered cord rare [HPO:skoehler] 8 / 7739
107
 (HPO:0002162) Low posterior hairline 88 / 7739
108
 (HPO:0002353) EEG abnormality 90% [HPO] 188 / 7739
109
 (HPO:0002389) Cavum septum pellucidum 13 / 7739
110
 (HPO:0002721) Immunodeficiency 69% [HPO] 97 / 7739
111
 (HPO:0002827) Hip dislocation 94 / 7739
112
 (HPO:0002948) Vertebral fusion 28 / 7739
113
 (HPO:0002974) Radioulnar synostosis 52 / 7739
114
 (HPO:0003199) Decreased muscle mass hallmark [HPO] 27 / 7739
115
 (HPO:0004322) Short stature common [HPO] 1232 / 7739
116
 (HPO:0004349) Reduced bone mineral density Occasional [Orphanet] 165 / 7739
117
 (HPO:0004467) Preauricular pit typical [HPO] 39 / 7739
118
 (HPO:0004484) Craniofacial asymmetry typical [HPO] 3 / 7739
119
 (HPO:0004794) Malrotation of small bowel 2 / 7739
120
 (HPO:0006655) Rib segmentation abnormalities frequent [HPO] 2 / 7739
121
 (HPO:0006703) Aplasia/Hypoplasia of the lungs Frequent [Orphanet] 79 / 7739
122
 (HPO:0007109) Periventricular cysts 4 / 7739
123
 (HPO:0007385) Aplasia cutis congenita of scalp occasional [HPO] 10 / 7739
124
 (HPO:0008850) Severe postnatal growth retardation common [HPO] 16 / 7739
125
 (HPO:0009193) Pseudoepiphyses of the metacarpals 4 / 7739
126
 (HPO:0009778) Short thumb occasional [HPO] 50 / 7739
127
 (HPO:0009918) Ectopia pupillae 6 / 7739
128
 (HPO:0010109) Short hallux occasional [HPO] 27 / 7739
129
 (HPO:0010864) Intellectual disability, severe 120 / 7739
130
 (HPO:0011863) Abnormal sternal ossification 1 / 7739
131
 (OMIM) Marked intrauterine growth retardation 1 / 7739
132
 (HPO:0000267) Cranial asymmetry 6 / 7739
133
 (OMIM) Posterior midline scalp defects 1 / 7739
134
 (OMIM) Exophthalmus 1 / 7739
135
 (OMIM) Sparse medial eyebrows 1 / 7739
136
 (OMIM) Absence of gallbladder 1 / 7739
137
 (OMIM) Sacral sinus 1 / 7739
138
 (OMIM) Bifid vertebrae 1 / 7739
139
 (OMIM) Absence of pubic rami 1 / 7739
140
 (OMIM) Thin limbs 3 / 7739
141
 (HPO:0010442) Polydactyly 69 / 7739
142
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
143
 (HPO:0010547) Muscle flaccidity 466 / 7739
144
 (OMIM) Interventricular cysts 1 / 7739
145
 (HPO:0001273) Abnormality of the corpus callosum 20 / 7739
146
 (OMIM) White matter hyperintensities on T2 imaging 1 / 7739
147
 (OMIM) Hemizygous deletion at 4p16.3 1 / 7739
148
 (OMIM) Contiguous gene deletion syndrome 23 / 7739
149
 (HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 328 / 7739
150
 (HPO:0011420) Death Occasional [Orphanet] 184 / 7739
151
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
152
 (HPO:0012795) Abnormality of the optic disc Frequent [Orphanet] 187 / 7739
153
 (HPO:0008772) Aplasia/Hypoplasia of the external ear Very frequent [Orphanet] 67 / 7739
154
 (HPO:0003220) Abnormality of chromosome stability Very frequent [Orphanet] 98 / 7739
155
 (HPO:0000174) Abnormality of the palate Occasional [Orphanet] 298 / 7739
156
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
157
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
158
 (HPO:0009804) Reduced number of teeth Very frequent [Orphanet] 137 / 7739
159
 (HPO:0000079) Abnormality of the urinary system Occasional [Orphanet] 88 / 7739
160
 (HPO:0011867) Abnormality of the wing of the ilium Frequent [Orphanet] 123 / 7739
161
 (HPO:0000078) Abnormality of the genital system Occasional [Orphanet] 33 / 7739
162
 (HPO:0000035) Abnormality of the testis Frequent [Orphanet] 296 / 7739
163
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
164
 (HPO:0001177) Preaxial hand polydactyly occasional [HPO] 59 / 7739
165
 (HPO:0003745) Sporadic 131 / 7739