Symptom Information: Sort according to HPO 

1
 (HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
2
 (HPO:0002089) Pulmonary hypoplasia 80 / 7739
3
 (HPO:0000369) Low-set ears 372 / 7739
4
 (HPO:0000356) Abnormality of the outer ear Very frequent [Orphanet] 85 / 7739
5
 (HPO:0000377) Abnormality of the pinna 111 / 7739
6
 (HPO:0000160) Narrow mouth Very frequent [Orphanet] 188 / 7739
7
 (HPO:0000581) Blepharophimosis Frequent [Orphanet] 197 / 7739
8
 (HPO:0000175) Cleft palate 349 / 7739
9
 (HPO:0000176) Submucous cleft hard palate 19 / 7739
10
 (HPO:0000185) Cleft soft palate 18 / 7739
11
 (HPO:0011819) Submucous cleft soft palate 12 / 7739
12
 (HPO:0000164) Abnormality of the teeth Very frequent [Orphanet] 291 / 7739
13
 (HPO:0002093) Respiratory insufficiency Very frequent [Orphanet] 410 / 7739
14
 (HPO:0000940) Abnormal diaphysis morphology Frequent [Orphanet] 41 / 7739
15
 (HPO:0001631) Atria septal defect Frequent [Orphanet] 274 / 7739
16
 (HPO:0000765) Abnormality of the thorax Frequent [Orphanet] 64 / 7739
17
 (HPO:0000347) Micrognathia 426 / 7739
18
 (HPO:0002616) Aortic root dilatation Occasional [Orphanet] 27 / 7739
19
 (HPO:0100679) Lack of skin elasticity Very frequent [Orphanet] 29 / 7739
20
 (HPO:0000653) Sparse eyelashes 58 / 7739
21
 (HPO:0000962) Hyperkeratosis Frequent [Orphanet] 216 / 7739
22
 (HPO:0000239) Large fontanelles Very frequent [Orphanet] 135 / 7739
23
 (HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
24
 (HPO:0100670) Rough bone trabeculation Very frequent [Orphanet] 12 / 7739
25
 (HPO:0001561) Polyhydramnios Frequent [Orphanet] 191 / 7739
26
 (HPO:0000621) Entropion 12 / 7739
27
 (HPO:0002808) Kyphosis Frequent [Orphanet] 289 / 7739
28
 (HPO:0100490) Camptodactyly of finger Frequent [Orphanet] 212 / 7739
29
 (HPO:0001072) Thickened skin Very frequent [Orphanet] 87 / 7739
30
 (HPO:0003196) Short nose Very frequent [Orphanet] 264 / 7739
31
 (HPO:0000834) Abnormality of the adrenal glands Frequent [Orphanet] 14 / 7739
32
 (HPO:0006660) Aplastic clavicles Frequent [Orphanet] 70 / 7739
33
 (HPO:0000194) Open mouth Very frequent [Orphanet] 70 / 7739
34
 (HPO:0001643) Patent ductus arteriosus Frequent [Orphanet] 228 / 7739
35
 (HPO:0001651) Dextrocardia Occasional [Orphanet] 38 / 7739
36
 (HPO:0000534) Abnormality of the eyebrow Frequent [Orphanet] 39 / 7739
37
 (HPO:0000047) Hypospadias Frequent [Orphanet] 250 / 7739
38
 (HPO:0000073) Ureteral duplication 11 / 7739
39
 (HPO:0000316) Hypertelorism 644 / 7739
40
 (HPO:0000418) Narrow nasal ridge 15 / 7739
41
 (HPO:0000453) Choanal atresia 76 / 7739
42
 (HPO:0000695) Natal tooth 42 / 7739
43
 (HPO:0000835) Adrenal hypoplasia 23 / 7739
44
 (HPO:0001196) Short umbilical cord 4 / 7739
45
 (HPO:0001371) Flexion contracture 220 / 7739
46
 (HPO:0001511) Intrauterine growth retardation 358 / 7739
47
 (HPO:0001558) Decreased fetal movement 74 / 7739
48
 (HPO:0001622) Premature birth 100 / 7739
49
 (HPO:0001788) Premature rupture of membranes 5 / 7739
50
 (HPO:0001799) Short nail 12 / 7739
51
 (HPO:0001838) Rocker bottom foot 85 / 7739
52
 (HPO:0002751) Kyphoscoliosis 131 / 7739
53
 (HPO:0004540) Congenital, generalized hypertrichosis Frequent [Orphanet] 11 / 7739
54
 (HPO:0005253) Increased anterioposterior diameter of thorax 1 / 7739
55
 (HPO:0004331) Decreased skull ossification 31 / 7739
56
 (HPO:0005474) Decreased calvarial ossification 8 / 7739
57
 (HPO:0006391) Overtubulated long bones 1 / 7739
58
 (HPO:0006585) Congenital pseudoarthrosis of the clavicle 4 / 7739
59
 (HPO:0006645) Thin clavicles 4 / 7739
60
 (HPO:0006703) Aplasia/Hypoplasia of the lungs Very frequent [Orphanet] 79 / 7739
61
 (HPO:0007394) Prominent superficial blood vessels 2 / 7739
62
 (HPO:0007543) Epidermal hyperkeratosis 2 / 7739
63
 (HPO:0011414) Hydropic placenta 3 / 7739
64
 (HPO:0100840) Aplasia/Hypoplasia of the eyebrow 117 / 7739
65
 (HPO:0200041) Skin erosion 2 / 7739
66
 (OMIM) Expressionless facies 1 / 7739
67
 (OMIM) Small, pinched nose 3 / 7739
68
 (OMIM) Ankylosis of temporomandibular joint 1 / 7739
69
 (OMIM) Thin, dysplastic bipartite clavicles 1 / 7739
70
 (OMIM) Ribbon-like ribs 3 / 7739
71
 (OMIM) Widened suture 4 / 7739
72
 (OMIM) Tight, rigid skin 1 / 7739
73
 (MedDRA:10040849) Skin fissures 3 / 7739
74
 (OMIM) Dermis thinning 1 / 7739
75
 (OMIM) Abnormal alignment of collagen bundles 1 / 7739
76
 (OMIM) Absence of normal rete ridge pattern 1 / 7739
77
 (OMIM) Long nails 1 / 7739
78
 (OMIM) Sparse/absent lanugo 1 / 7739
79
 (OMIM) Normal scalp hair 1 / 7739
80
 (HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 328 / 7739
81
 (HPO:0001522) Death in infancy Very frequent [Orphanet] 275 / 7739
82
 (HPO:0000079) Abnormality of the urinary system Frequent [Orphanet] 88 / 7739
83
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
84
 (HPO:0000492) Abnormality of the eyelid Very frequent [Orphanet] 41 / 7739
85
 (HPO:0008772) Aplasia/Hypoplasia of the external ear Frequent [Orphanet] 67 / 7739
86
 (HPO:0000606) Abnormality of the periorbital region Frequent [Orphanet] 96 / 7739
87
 (HPO:0200102) Sparse or absent eyelashes Very frequent [Orphanet] 64 / 7739
88
 (HPO:0011420) Death Very frequent [Orphanet] 184 / 7739
89
 (HPO:0000174) Abnormality of the palate Frequent [Orphanet] 298 / 7739
90
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
91
 (HPO:0001425) Heterogeneous 132 / 7739
92
 (HPO:0003826) Stillbirth 40 / 7739
93
 (HPO:0012745) Short palpebral fissure 47 / 7739