Symptom Information: Sort according to HPO 

1
 (HPO:0000130) Abnormality of the uterus Occasional [Orphanet] 86 / 7739
2
 (HPO:0000572) Visual loss Occasional [Orphanet] 272 / 7739
3
 (HPO:0003298) Spina bifida occulta Occasional [Orphanet] 67 / 7739
4
 (HPO:0000612) Iris coloboma Occasional [Orphanet] 116 / 7739
5
 (HPO:0004760) Congenital septal defect Frequent [Orphanet] 69 / 7739
6
 (HPO:0000581) Blepharophimosis Frequent [Orphanet] 197 / 7739
7
 (HPO:0000073) Ureteral duplication 11 / 7739
8
 (HPO:0000405) Conductive hearing impairment Occasional [Orphanet] 164 / 7739
9
 (HPO:0001274) Agenesis of corpus callosum 142 / 7739
10
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Occasional [Orphanet] 180 / 7739
11
 (HPO:0000582) Upslanted palpebral fissure Frequent [Orphanet] 185 / 7739
12
 (HPO:0005280) Depressed nasal bridge Occasional [Orphanet] 381 / 7739
13
 (HPO:0002120) Cerebral cortical atrophy Occasional [Orphanet] 187 / 7739
14
 (HPO:0000639) Nystagmus Frequent [Orphanet] 555 / 7739
15
 (HPO:0000593) Abnormality of the anterior chamber Very frequent [Orphanet] 15 / 7739
16
 (HPO:0000072) Hydroureter Occasional [Orphanet] 146 / 7739
17
 (HPO:0000126) Hydronephrosis 119 / 7739
18
 (HPO:0000482) Microcornea Frequent [Orphanet] 102 / 7739
19
 (HPO:0001561) Polyhydramnios Occasional [Orphanet] 191 / 7739
20
 (HPO:0000501) Glaucoma Very frequent [Orphanet] 180 / 7739
21
 (HPO:0000463) Anteverted nares Occasional [Orphanet] 305 / 7739
22
 (HPO:0003196) Short nose Occasional [Orphanet] 264 / 7739
23
 (HPO:0100819) Intestinal fistula Occasional [Orphanet] 3 / 7739
24
 (HPO:0001511) Intrauterine growth retardation Very frequent [Orphanet] 358 / 7739
25
 (HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
26
 (HPO:0002119) Ventriculomegaly Occasional [Orphanet] 253 / 7739
27
 (HPO:0002983) Micromelia Very frequent [Orphanet] 130 / 7739
28
 (HPO:0000059) Hypoplastic labia majora 22 / 7739
29
 (HPO:0000060) Clitoral hypoplasia 9 / 7739
30
 (HPO:0000343) Long philtrum Very frequent [Orphanet] 262 / 7739
31
 (HPO:0000047) Hypospadias Frequent [Orphanet] 250 / 7739
32
 (HPO:0000311) Round face Very frequent [Orphanet] 104 / 7739
33
 (HPO:0000219) Thin upper lip vermilion 112 / 7739
34
 (HPO:0000233) Thin vermilion border Very frequent [Orphanet] 124 / 7739
35
 (HPO:0001642) Pulmonic stenosis 89 / 7739
36
 (HPO:0011968) Feeding difficulties 240 / 7739
37
 (HPO:0002007) Frontal bossing Frequent [Orphanet] 366 / 7739
38
 (HPO:0011220) Prominent forehead 137 / 7739
39
 (HPO:0000252) Microcephaly Occasional [Orphanet] 832 / 7739
40
 (HPO:0002263) Exaggerated cupid's bow Very frequent [Orphanet] 15 / 7739
41
 (HPO:0010769) Pilonidal sinus Occasional [Orphanet] 35 / 7739
42
 (HPO:0002023) Anal atresia Occasional [Orphanet] 135 / 7739
43
 (HPO:0000316) Hypertelorism Frequent [Orphanet] 644 / 7739
44
 (HPO:0000347) Micrognathia 426 / 7739
45
 (HPO:0000465) Webbed neck Frequent [Orphanet] 81 / 7739
46
 (HPO:0000202) Oral cleft Frequent [Orphanet] 120 / 7739
47
 (HPO:0000154) Wide mouth Occasional [Orphanet] 137 / 7739
48
 (HPO:0000248) Brachycephaly Very frequent [Orphanet] 222 / 7739
49
 (HPO:0000028) Cryptorchidism 347 / 7739
50
 (HPO:0000518) Cataract Frequent [Orphanet] 454 / 7739
51
 (HPO:0004209) Clinodactyly of the 5th finger Very frequent [Orphanet] 288 / 7739
52
 (HPO:0001770) Toe syndactyly Frequent [Orphanet] 149 / 7739
53
 (HPO:0001537) Umbilical hernia Occasional [Orphanet] 206 / 7739
54
 (HPO:0001773) Short foot 86 / 7739
55
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
56
 (HPO:0000384) Preauricular skin tag Frequent [Orphanet] 62 / 7739
57
 (HPO:0000013) Hypoplasia of the uterus 21 / 7739
58
 (HPO:0000069) Abnormality of the ureter Occasional [Orphanet] 47 / 7739
59
 (HPO:0000175) Cleft palate 349 / 7739
60
 (HPO:0000200) Short lingual frenulum 4 / 7739
61
 (HPO:0000204) Cleft upper lip 193 / 7739
62
 (HPO:0000238) Hydrocephalus 278 / 7739
63
 (HPO:0000256) Macrocephaly 298 / 7739
64
 (HPO:0001355) Megalencephaly 39 / 7739
65
 (HPO:0004482) Relative macrocephaly 44 / 7739
66
 (HPO:0000260) Wide anterior fontanel 55 / 7739
67
 (HPO:0000402) Stenosis of the external auditory canal 22 / 7739
68
 (HPO:0000411) Protruding ear 140 / 7739
69
 (HPO:0000475) Broad neck 12 / 7739
70
 (HPO:0000480) Retinal coloboma 16 / 7739
71
 (HPO:0000508) Ptosis 459 / 7739
72
 (HPO:0000545) Myopia 286 / 7739
73
 (HPO:0000659) Peters anomaly 10 / 7739
74
 (HPO:0000690) Agenesis of maxillary lateral incisor 4 / 7739
75
 (HPO:0000767) Pectus excavatum 244 / 7739
76
 (HPO:0000954) Single transverse palmar crease 162 / 7739
77
 (HPO:0001080) Biliary tract abnormality 26 / 7739
78
 (HPO:0001159) Syndactyly 140 / 7739
79
 (HPO:0001250) Seizures 1245 / 7739
80
 (HPO:0001363) Craniosynostosis 132 / 7739
81
 (HPO:0001382) Joint hypermobility 231 / 7739
82
 (HPO:0001388) Joint laxity 117 / 7739
83
 (HPO:0005692) Joint hyperflexibility 20 / 7739
84
 (HPO:0001540) Diastasis recti 23 / 7739
85
 (HPO:0001629) Ventricular septal defect 316 / 7739
86
 (HPO:0001631) Atria septal defect 274 / 7739
87
 (HPO:0001761) Pes cavus 225 / 7739
88
 (HPO:0002059) Cerebral atrophy 171 / 7739
89
 (HPO:0002219) Facial hypertrichosis 8 / 7739
90
 (HPO:0002650) Scoliosis 705 / 7739
91
 (HPO:0002937) Hemivertebrae 41 / 7739
92
 (HPO:0002996) Limited elbow movement 16 / 7739
93
 (HPO:0003278) Square pelvis bone 3 / 7739
94
 (HPO:0003561) Birth length less than 3rd percentile 10 / 7739
95
 (HPO:0004325) Decreased body weight Frequent [Orphanet] 492 / 7739
96
 (HPO:0004404) Abnormality of the nipple Occasional [Orphanet] 54 / 7739
97
 (HPO:0004414) Abnormality of the pulmonary artery Frequent [Orphanet] 50 / 7739
98
 (HPO:0004467) Preauricular pit 39 / 7739
99
 (HPO:0006610) Wide intermamillary distance 46 / 7739
100
 (HPO:0006887) Intellectual disability, progressive 20 % [HPO:skoehler] 68 / 7739
101
 (HPO:0008569) Microtia, second degree 1 / 7739
102
 (HPO:0008678) Renal hypoplasia/aplasia Occasional [Orphanet] 127 / 7739
103
 (HPO:0008726) Hypoplasia of the vagina 4 / 7739
104
 (HPO:0008872) Feeding difficulties in infancy 153 / 7739
105
 (HPO:0008897) Postnatal growth retardation 113 / 7739
106
 (HPO:0008905) Rhizomelia 85 / 7739
107
 (HPO:0009623) Proximal placement of thumb 50 / 7739
108
 (HPO:0010049) Short metacarpal 99 / 7739
109
 (HPO:0010743) Short metatarsal 56 / 7739
110
 (HPO:0011065) Conical incisor 5 / 7739
111
 (OMIM) Adult male height 141-155cm 1 / 7739
112
 (OMIM) Adult female height 128-151cm 1 / 7739
113
 (HPO:0008873) Disproportionate short-limb short stature 39 / 7739
114
 (OMIM) Birthweight < 3rd percentile (87%) 1 / 7739
115
 (OMIM) Small, malformed ears 1 / 7739
116
 (HPO:0007700) Anterior segment dysgenesis 9 / 7739
117
 (OMIM) Abnormally pointed upper lateral incisors 1 / 7739
118
 (OMIM) Double gallbladder 1 / 7739
119
 (OMIM) Abnormal foreskin 1 / 7739
120
 (OMIM) Kidney duplication 1 / 7739
121
 (HPO:0003422) Vertebral segmentation defect 95 / 7739
122
 (OMIM) Flat iliac crests 1 / 7739
123
 (OMIM) Rhizomelic shortening 12 / 7739
124
 (OMIM) Broad, short hands 14 / 7739
125
 (OMIM) Broad, short feet 8 / 7739
126
 (OMIM) Deep foot creases 1 / 7739
127
 (OMIM) Mild-severe mental retardation (20%) 1 / 7739
128
 (HPO:0012444) Brain atrophy 24 / 7739
129
 (HPO:0000357) Abnormal location of ears Occasional [Orphanet] 328 / 7739
130
 (HPO:0011484) Posterior synechiae of the anterior chamber Very frequent [Orphanet] 5 / 7739
131
 (HPO:0008772) Aplasia/Hypoplasia of the external ear Frequent [Orphanet] 67 / 7739
132
 (HPO:0000107) Renal cyst Occasional [Orphanet] 126 / 7739
133
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
134
 (HPO:0004299) Hernia of the abdominal wall Occasional [Orphanet] 176 / 7739
135
 (HPO:0012815) Hypoplastic female external genitalia Occasional [Orphanet] 36 / 7739
136
 (HPO:0001522) Death in infancy Occasional [Orphanet] 275 / 7739
137
 (HPO:0040075) Hypopituitarism Occasional [Orphanet] 32 / 7739
138
 (HPO:0000436) Abnormality of the nasal tip Very frequent [Orphanet] 18 / 7739
139
 (HPO:0000481) Abnormality of the cornea Very frequent [Orphanet] 124 / 7739
140
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
141
 (HPO:0006494) Aplasia/Hypoplasia involving bones of the feet Very frequent [Orphanet] 69 / 7739
142
 (HPO:0012795) Abnormality of the optic disc Occasional [Orphanet] 187 / 7739
143
 (HPO:0000035) Abnormality of the testis Frequent [Orphanet] 296 / 7739
144
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
145
 (HPO:0005608) Bilobate gallbladder 3 / 7739