Symptom Information: Sort according to HPO 

1
 (HPO:0000457) Depressed nasal ridge Frequent [Orphanet] 85 / 7739
2
 (HPO:0003202) Skeletal muscle atrophy Frequent [Orphanet] 281 / 7739
3
 (HPO:0002334) Abnormality of the cerebellar vermis Frequent [Orphanet] 137 / 7739
4
 (HPO:0002089) Pulmonary hypoplasia 80 / 7739
5
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
6
 (HPO:0000153) Abnormality of the mouth Frequent [Orphanet] 60 / 7739
7
 (HPO:0000951) Abnormality of the skin Frequent [Orphanet] 147 / 7739
8
 (HPO:0000175) Cleft palate 349 / 7739
9
 (HPO:0001595) Abnormality of the hair Occasional [Orphanet] 89 / 7739
10
 (HPO:0001769) Broad foot Frequent [Orphanet] 31 / 7739
11
 (HPO:0001274) Agenesis of corpus callosum 142 / 7739
12
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Frequent [Orphanet] 180 / 7739
13
 (HPO:0000316) Hypertelorism Frequent [Orphanet] 644 / 7739
14
 (HPO:0000347) Micrognathia 426 / 7739
15
 (HPO:0001305) Dandy-Walker malformation Frequent [Orphanet] 79 / 7739
16
 (HPO:0000036) Abnormality of the penis Occasional [Orphanet] 8 / 7739
17
 (HPO:0000520) Proptosis Frequent [Orphanet] 192 / 7739
18
 (HPO:0100679) Lack of skin elasticity Very frequent [Orphanet] 29 / 7739
19
 (HPO:0030680) Abnormality of cardiovascular system morphology Occasional [Orphanet] 355 / 7739
20
 (HPO:0001371) Flexion contracture 220 / 7739
21
 (HPO:0003394) Muscle cramps Frequent [Orphanet] 106 / 7739
22
 (HPO:0002650) Scoliosis Occasional [Orphanet] 705 / 7739
23
 (HPO:0000340) Sloping forehead Very frequent [Orphanet] 86 / 7739
24
 (HPO:0000518) Cataract Occasional [Orphanet] 454 / 7739
25
 (HPO:0001557) Prenatal movement abnormality Frequent [Orphanet] 16 / 7739
26
 (HPO:0001558) Decreased fetal movement 74 / 7739
27
 (HPO:0001561) Polyhydramnios Frequent [Orphanet] 191 / 7739
28
 (HPO:0001059) Pterygium Occasional [Orphanet] 16 / 7739
29
 (HPO:0001339) Lissencephaly 30 / 7739
30
 (HPO:0002536) Abnormal cortical gyration Frequent [Orphanet] 72 / 7739
31
 (HPO:0008064) Ichthyosis Very frequent [Orphanet] 108 / 7739
32
 (HPO:0000204) Cleft upper lip Occasional [Orphanet] 193 / 7739
33
 (HPO:0000232) Everted lower lip vermilion Frequent [Orphanet] 90 / 7739
34
 (HPO:0001511) Intrauterine growth retardation Very frequent [Orphanet] 358 / 7739
35
 (HPO:0000062) Ambiguous genitalia Frequent [Orphanet] 74 / 7739
36
 (HPO:0002414) Spina bifida Occasional [Orphanet] 47 / 7739
37
 (HPO:0000269) Prominent occiput Occasional [Orphanet] 43 / 7739
38
 (HPO:0002514) Cerebral calcification Occasional [Orphanet] 89 / 7739
39
 (HPO:0001176) Large hands Frequent [Orphanet] 43 / 7739
40
 (HPO:0002119) Ventriculomegaly Occasional [Orphanet] 253 / 7739
41
 (HPO:0002983) Micromelia Occasional [Orphanet] 130 / 7739
42
 (HPO:0000028) Cryptorchidism 347 / 7739
43
 (HPO:0000104) Renal agenesis 68 / 7739
44
 (HPO:0000136) Bifid uterus 6 / 7739
45
 (HPO:0000400) Macrotia 108 / 7739
46
 (HPO:0000470) Short neck 345 / 7739
47
 (HPO:0000561) Absent eyelashes 18 / 7739
48
 (HPO:0000568) Microphthalmia 183 / 7739
49
 (HPO:0001196) Short umbilical cord 4 / 7739
50
 (HPO:0001321) Cerebellar hypoplasia 114 / 7739
51
 (HPO:0001629) Ventricular septal defect 316 / 7739
52
 (HPO:0001643) Patent ductus arteriosus 228 / 7739
53
 (HPO:0001655) Patent foramen ovale 31 / 7739
54
 (HPO:0001669) Transposition of the great arteries 36 / 7739
55
 (HPO:0001770) Toe syndactyly 149 / 7739
56
 (HPO:0001838) Rocker bottom foot 85 / 7739
57
 (HPO:0001848) Calcaneovalgus deformity 12 / 7739
58
 (HPO:0002190) Choroid plexus cyst 5 / 7739
59
 (HPO:0002324) Hydranencephaly 9 / 7739
60
 (HPO:0004349) Reduced bone mineral density Occasional [Orphanet] 165 / 7739
61
 (HPO:0006101) Finger syndactyly 198 / 7739
62
 (HPO:0006703) Aplasia/Hypoplasia of the lungs Occasional [Orphanet] 79 / 7739
63
 (HPO:0007430) Generalized edema 5 / 7739
64
 (HPO:0007525) Yellow subcutaneous tissue covered by thin, scaly skin 1 / 7739
65
 (HPO:0009466) Radial deviation of finger 101 / 7739
66
 (HPO:0009473) Joint contracture of the hand 84 / 7739
67
 (HPO:0011224) Ablepharon 2 / 7739
68
 (HPO:0012385) Camptodactyly 113 / 7739
69
 (OMIM) Round, gaping mouth 1 / 7739
70
 (HPO:0012471) Thick vermilion border Very frequent [Orphanet] 115 / 7739
71
 (HPO:0001631) Atria septal defect 274 / 7739
72
 (OMIM) Poorly mineralized bones 1 / 7739
73
 (OMIM) Short limbs 17 / 7739
74
 (OMIM) Puffiness of hands 1 / 7739
75
 (MedDRA:10058668) Clinodactyly 91 / 7739
76
 (OMIM) Puffiness of feet 1 / 7739
77
 (OMIM) Absent scalp hair 2 / 7739
78
 (OMIM) Absence of olfactory bulbs 1 / 7739
79
 (HPO:0400004) Long ear Frequent [Orphanet] 94 / 7739
80
 (HPO:0000174) Abnormality of the palate Occasional [Orphanet] 298 / 7739
81
 (HPO:0000606) Abnormality of the periorbital region Occasional [Orphanet] 96 / 7739
82
 (HPO:0040064) Abnormality of limbs Very frequent [Orphanet] 16 / 7739
83
 (HPO:0011420) Death Very frequent [Orphanet] 184 / 7739
84
 (HPO:0002803) Congenital contracture Occasional [Orphanet] 45 / 7739
85
 (HPO:0000277) Abnormality of the mandible Occasional [Orphanet] 394 / 7739
86
 (HPO:0008373) Puberty and gonadal disorders Frequent [Orphanet] 156 / 7739
87
 (HPO:0012639) Abnormality of nervous system morphology Very frequent [Orphanet] 25 / 7739
88
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
89
 (HPO:0000179) Thick lower lip vermilion 72 / 7739
90
 (HPO:0003826) Stillbirth 40 / 7739
91
 (HPO:0006266) Small placenta 2 / 7739
92
 (HPO:0030084) Clinodactyly 90 / 7739