Symptom Information: Sort according to HPO 

1
 (HPO:0001387) Joint stiffness Frequent [Orphanet] 322 / 7739
2
 (HPO:0001252) Muscular hypotonia Frequent [Orphanet] 990 / 7739
3
 (HPO:0001324) Muscle weakness 859 / 7739
4
 (HPO:0000358) Posteriorly rotated ears 163 / 7739
5
 (HPO:0000369) Low-set ears 372 / 7739
6
 (HPO:0000581) Blepharophimosis Very frequent [Orphanet] 197 / 7739
7
 (HPO:0000574) Thick eyebrow Frequent [Orphanet] 96 / 7739
8
 (HPO:0001276) Hypertonia Frequent [Orphanet] 317 / 7739
9
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Occasional [Orphanet] 180 / 7739
10
 (HPO:0030680) Abnormality of cardiovascular system morphology Occasional [Orphanet] 355 / 7739
11
 (HPO:0000582) Upslanted palpebral fissure Frequent [Orphanet] 185 / 7739
12
 (HPO:0005280) Depressed nasal bridge Very frequent [Orphanet] 381 / 7739
13
 (HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
14
 (HPO:0001850) Abnormality of the tarsal bones Frequent [Orphanet] 40 / 7739
15
 (HPO:0000639) Nystagmus Frequent [Orphanet] 555 / 7739
16
 (HPO:0001362) Calvarial skull defect Occasional [Orphanet] 22 / 7739
17
 (HPO:0000072) Hydroureter Occasional [Orphanet] 146 / 7739
18
 (HPO:0011800) Midface retrusion Very frequent [Orphanet] 221 / 7739
19
 (HPO:0000463) Anteverted nares Very frequent [Orphanet] 305 / 7739
20
 (HPO:0001162) Postaxial hand polydactyly Occasional [Orphanet] 119 / 7739
21
 (HPO:0003196) Short nose Frequent [Orphanet] 264 / 7739
22
 (HPO:0000772) Abnormality of the ribs Occasional [Orphanet] 146 / 7739
23
 (HPO:0001250) Seizures Frequent [Orphanet] 1245 / 7739
24
 (HPO:0000775) Abnormality of the diaphragm Occasional [Orphanet] 62 / 7739
25
 (HPO:0007477) Abnormal dermatoglyphics Very frequent [Orphanet] 72 / 7739
26
 (HPO:0003468) Abnormality of the vertebrae Occasional [Orphanet] 77 / 7739
27
 (HPO:0000343) Long philtrum Very frequent [Orphanet] 262 / 7739
28
 (HPO:0000047) Hypospadias Frequent [Orphanet] 250 / 7739
29
 (HPO:0000252) Microcephaly Frequent [Orphanet] 832 / 7739
30
 (HPO:0000160) Narrow mouth Frequent [Orphanet] 188 / 7739
31
 (HPO:0002553) Highly arched eyebrow Frequent [Orphanet] 92 / 7739
32
 (HPO:0009738) Abnormality of the antihelix Very frequent [Orphanet] 37 / 7739
33
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
34
 (HPO:0000465) Webbed neck Very frequent [Orphanet] 81 / 7739
35
 (HPO:0000347) Micrognathia 426 / 7739
36
 (HPO:0000494) Downslanted palpebral fissures Occasional [Orphanet] 328 / 7739
37
 (HPO:0004299) Hernia of the abdominal wall Occasional [Orphanet] 176 / 7739
38
 (HPO:0002705) High, narrow palate Very frequent [Orphanet] 308 / 7739
39
 (HPO:0000248) Brachycephaly Very frequent [Orphanet] 222 / 7739
40
 (HPO:0000453) Choanal atresia Occasional [Orphanet] 76 / 7739
41
 (HPO:0000470) Short neck Very frequent [Orphanet] 345 / 7739
42
 (HPO:0000664) Synophrys Frequent [Orphanet] 112 / 7739
43
 (HPO:0000243) Trigonocephaly Very frequent [Orphanet] 40 / 7739
44
 (HPO:0000954) Single transverse palmar crease Occasional [Orphanet] 162 / 7739
45
 (HPO:0000062) Ambiguous genitalia Frequent [Orphanet] 74 / 7739
46
 (HPO:0000486) Strabismus Frequent [Orphanet] 576 / 7739
47
 (HPO:0000286) Epicanthus Frequent [Orphanet] 371 / 7739
48
 (HPO:0002162) Low posterior hairline Very frequent [Orphanet] 88 / 7739
49
 (HPO:0009623) Proximal placement of thumb Very frequent [Orphanet] 50 / 7739
50
 (HPO:0001249) Intellectual disability 1089 / 7739
51
 (HPO:0001263) Global developmental delay 853 / 7739
52
 (HPO:0000023) Inguinal hernia 181 / 7739
53
 (HPO:0000054) Micropenis 257 / 7739
54
 (HPO:0000164) Abnormality of the teeth Frequent [Orphanet] 291 / 7739
55
 (HPO:0000219) Thin upper lip vermilion 112 / 7739
56
 (HPO:0000377) Abnormality of the pinna 111 / 7739
57
 (HPO:0000431) Wide nasal bridge 290 / 7739
58
 (HPO:0000545) Myopia 286 / 7739
59
 (HPO:0000750) Delayed speech and language development 197 / 7739
60
 (HPO:0001182) Tapered finger 93 / 7739
61
 (HPO:0001231) Abnormality of the fingernails Very frequent [Orphanet] 116 / 7739
62
 (HPO:0001539) Omphalocele 102 / 7739
63
 (HPO:0001629) Ventricular septal defect 316 / 7739
64
 (HPO:0001631) Atria septal defect 274 / 7739
65
 (HPO:0001643) Patent ductus arteriosus 228 / 7739
66
 (HPO:0001763) Pes planus 176 / 7739
67
 (HPO:0001795) Hyperconvex nail 13 / 7739
68
 (HPO:0002286) Fair hair 20 / 7739
69
 (HPO:0004404) Abnormality of the nipple Very frequent [Orphanet] 54 / 7739
70
 (HPO:0005882) Dermatoglyphic variants 1 / 7739
71
 (HPO:0006610) Wide intermamillary distance 46 / 7739
72
 (HPO:0008056) Aplasia/Hypoplasia affecting the eye Occasional [Orphanet] 142 / 7739
73
 (HPO:0009906) Aplasia/Hypoplasia of the earlobes Very frequent [Orphanet] 41 / 7739
74
 (OMIM) Small palpebral fissures 6 / 7739
75
 (OMIM) Heart murmurs 1 / 7739
76
 (OMIM) Congenital cardiac malformations 1 / 7739
77
 (HPO:0000980) Pallor 52 / 7739
78
 (OMIM) Brown or blond hair 1 / 7739
79
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
80
 (HPO:0010547) Muscle flaccidity 466 / 7739
81
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
82
 (HPO:0000372) Abnormality of the auditory canal Occasional [Orphanet] 49 / 7739
83
 (HPO:0000035) Abnormality of the testis Frequent [Orphanet] 296 / 7739
84
 (HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 328 / 7739
85
 (HPO:0000174) Abnormality of the palate Occasional [Orphanet] 298 / 7739
86
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
87
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
88
 (HPO:0000272) Malar flattening 277 / 7739
89
 (HPO:0003745) Sporadic 131 / 7739
90
 (HPO:0030148) Heart murmur 29 / 7739
91
 (HPO:0045025) Narrow palpebral fissure 8 / 7739