Symptom Information: Sort according to HPO 

1
 (HPO:0002334) Abnormality of the cerebellar vermis Frequent [Orphanet] 137 / 7739
2
 (HPO:0000358) Posteriorly rotated ears 163 / 7739
3
 (HPO:0000369) Low-set ears 372 / 7739
4
 (HPO:0000574) Thick eyebrow Very frequent [Orphanet] 96 / 7739
5
 (HPO:0000445) Wide nose Very frequent [Orphanet] 190 / 7739
6
 (HPO:0002079) Hypoplasia of the corpus callosum 161 / 7739
7
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Very frequent [Orphanet] 180 / 7739
8
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
9
 (HPO:0000202) Oral cleft Occasional [Orphanet] 120 / 7739
10
 (HPO:0000494) Downslanted palpebral fissures Frequent [Orphanet] 328 / 7739
11
 (HPO:0004299) Hernia of the abdominal wall Frequent [Orphanet] 176 / 7739
12
 (HPO:0000774) Narrow chest Very frequent [Orphanet] 167 / 7739
13
 (HPO:0000154) Wide mouth Very frequent [Orphanet] 137 / 7739
14
 (HPO:0002937) Hemivertebrae 41 / 7739
15
 (HPO:0000248) Brachycephaly Very frequent [Orphanet] 222 / 7739
16
 (HPO:0000256) Macrocephaly Frequent [Orphanet] 298 / 7739
17
 (HPO:0002650) Scoliosis Frequent [Orphanet] rare [HPO:skoehler] 705 / 7739
18
 (HPO:0002120) Cerebral cortical atrophy Frequent [Orphanet] 187 / 7739
19
 (HPO:0009553) Abnormality of the hairline Frequent [Orphanet] 30 / 7739
20
 (HPO:0002208) Coarse hair Frequent [Orphanet] 58 / 7739
21
 (HPO:0000912) Sprengel anomaly Frequent [Orphanet] 51 / 7739
22
 (HPO:0000470) Short neck Very frequent [Orphanet] 345 / 7739
23
 (HPO:0001561) Polyhydramnios Frequent [Orphanet] 191 / 7739
24
 (HPO:0000921) Missing ribs Very frequent [Orphanet] 62 / 7739
25
 (HPO:0011800) Midface retrusion Very frequent [Orphanet] 221 / 7739
26
 (HPO:0000664) Synophrys Frequent [Orphanet] 112 / 7739
27
 (HPO:0003196) Short nose Frequent [Orphanet] 264 / 7739
28
 (HPO:0003312) Abnormal form of the vertebral bodies Frequent [Orphanet] 172 / 7739
29
 (HPO:0004322) Short stature Frequent [Orphanet] 1232 / 7739
30
 (HPO:0000486) Strabismus Frequent [Orphanet] rare [HPO:skoehler] 576 / 7739
31
 (HPO:0000286) Epicanthus Frequent [Orphanet] 371 / 7739
32
 (HPO:0002162) Low posterior hairline Frequent [Orphanet] 88 / 7739
33
 (HPO:0002119) Ventriculomegaly Frequent [Orphanet] 253 / 7739
34
 (HPO:0001249) Intellectual disability 1089 / 7739
35
 (HPO:0001270) Motor delay 322 / 7739
36
 (HPO:0000023) Inguinal hernia 181 / 7739
37
 (HPO:0000049) Shawl scrotum 31 / 7739
38
 (HPO:0000175) Cleft palate 349 / 7739
39
 (HPO:0000204) Cleft upper lip 193 / 7739
40
 (HPO:0000288) Abnormality of the philtrum Very frequent [Orphanet] 54 / 7739
41
 (HPO:0000327) Hypoplasia of the maxilla 129 / 7739
42
 (HPO:0000341) Narrow forehead 96 / 7739
43
 (HPO:0000347) Micrognathia 426 / 7739
44
 (HPO:0000508) Ptosis rare [HPO:skoehler] 459 / 7739
45
 (HPO:0001488) Bilateral ptosis 42 / 7739
46
 (HPO:0006136) Bilateral postaxial polydactyly 30 / 7739
47
 (HPO:0000535) Sparse and thin eyebrow 76 / 7739
48
 (HPO:0000582) Upslanted palpebral fissure 185 / 7739
49
 (HPO:0000653) Sparse eyelashes 58 / 7739
50
 (HPO:0000772) Abnormality of the ribs Very frequent [Orphanet] 146 / 7739
51
 (HPO:0000824) Growth hormone deficiency rare [HPO:skoehler] 56 / 7739
52
 (HPO:0000892) Bifid ribs 4 / 7739
53
 (HPO:0000902) Rib fusion 19 / 7739
54
 (HPO:0000960) Sacral dimple 29 / 7739
55
 (HPO:0001162) Postaxial hand polydactyly 119 / 7739
56
 (HPO:0001252) Muscular hypotonia 990 / 7739
57
 (HPO:0001324) Muscle weakness 859 / 7739
58
 (HPO:0001382) Joint hypermobility rare [HPO:skoehler] 231 / 7739
59
 (HPO:0001388) Joint laxity 117 / 7739
60
 (HPO:0005692) Joint hyperflexibility 20 / 7739
61
 (HPO:0001520) Large for gestational age 34 / 7739
62
 (HPO:0001631) Atria septal defect 274 / 7739
63
 (HPO:0001643) Patent ductus arteriosus rare [HPO:skoehler] 228 / 7739
64
 (HPO:0011648) Patent ductus arteriosus after birth at term 18 / 7739
65
 (HPO:0001763) Pes planus rare [HPO:skoehler] 176 / 7739
66
 (HPO:0001845) Overlapping toe rare [HPO:skoehler] 18 / 7739
67
 (HPO:0002290) Poliosis 3 / 7739
68
 (HPO:0002558) Supernumerary nipple 40 / 7739
69
 (HPO:0003422) Vertebral segmentation defect Very frequent [Orphanet] 95 / 7739
70
 (HPO:0004568) Beaking of vertebral bodies 19 / 7739
71
 (HPO:0008897) Postnatal growth retardation rare [HPO:skoehler] 113 / 7739
72
 (HPO:0011504) Bull's eye maculopathy rare [HPO:skoehler] 8 / 7739
73
 (HPO:0012368) Flat face 106 / 7739
74
 (HPO:0000608) Macular degeneration 36 / 7739
75
 (HPO:0007754) Macular dystrophy 26 / 7739
76
 (OMIM) Bilateral optic nerve colobomas (rare) 1 / 7739
77
 (OMIM) Broad and short nose 4 / 7739
78
 (HPO:0200141) Small, conical teeth 2 / 7739
79
 (OMIM) Elevated scapulae 1 / 7739
80
 (OMIM) Renal pelvic dilatation (rare) 1 / 7739
81
 (OMIM) Distal ureter dilatation (rare) 1 / 7739
82
 (OMIM) Cervical and thoracic vertebrae fusion 1 / 7739
83
 (OMIM) Cervical vertebrae clefting 1 / 7739
84
 (OMIM) Anterior subluxation of the shoulders (rare) 1 / 7739
85
 (HPO:0100259) Postaxial polydactyly 85 / 7739
86
 (OMIM) Valgus feet (rare) 1 / 7739
87
 (HPO:0001761) Pes cavus 225 / 7739
88
 (HPO:0001765) Hammertoe 63 / 7739
89
 (HPO:0001822) Hallux valgus 70 / 7739
90
 (HPO:0001838) Rocker bottom foot 85 / 7739
91
 (OMIM) Large septum pellucidum 1 / 7739
92
 (OMIM) Calcified petroclinoid ligament 1 / 7739
93
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
94
 (HPO:0010547) Muscle flaccidity 466 / 7739
95
 (OMIM) Hypodensity of gray matter (rare) 1 / 7739
96
 (OMIM) Delayed myelinization (in some patients) 2 / 7739
97
 (OMIM) Affable behavior 1 / 7739
98
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
99
 (HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 328 / 7739
100
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
101
 (HPO:0000077) Abnormality of the kidney rare [HPO:skoehler] 73 / 7739
102
 (HPO:0000212) Gingival overgrowth 43 / 7739
103
 (HPO:0000218) High palate 356 / 7739
104
 (HPO:0000252) Microcephaly rare [HPO:skoehler] 832 / 7739
105
 (HPO:0000294) Low anterior hairline 52 / 7739
106
 (HPO:0000368) Low-set, posteriorly rotated ears 38 / 7739
107
 (HPO:0000527) Long eyelashes 46 / 7739
108
 (HPO:0000739) Anxiety rare [HPO:skoehler] 67 / 7739
109
 (HPO:0000742) Self-mutilation rare [HPO:skoehler] 27 / 7739
110
 (HPO:0001319) Neonatal hypotonia 101 / 7739
111
 (HPO:0001363) Craniosynostosis rare [HPO:skoehler] 132 / 7739
112
 (HPO:0001558) Decreased fetal movement rare [HPO:skoehler] 74 / 7739
113
 (HPO:0001762) Talipes equinovarus rare [HPO:skoehler] 309 / 7739
114
 (HPO:0002553) Highly arched eyebrow 92 / 7739
115
 (HPO:0006347) Microdontia of primary teeth 4 / 7739
116
 (HPO:0006610) Wide intermamillary distance 46 / 7739
117
 (HPO:0007018) Attention deficit hyperactivity disorder rare [HPO:skoehler] 56 / 7739
118
 (HPO:0011968) Feeding difficulties 240 / 7739