Symptom Information: Sort according to HPO 

1
 (HPO:0000130) Abnormality of the uterus Occasional [Orphanet] 86 / 7739
2
 (HPO:0002089) Pulmonary hypoplasia occasional [HPO] 12668600 IBIS 80 / 7739
3
 (HPO:0000820) Abnormality of the thyroid gland Very frequent [Orphanet] 19 / 7739
4
 (HPO:0002435) Meningocele Occasional [Orphanet] 23 / 7739
5
 (HPO:0100555) Asymmetric growth Very frequent [Orphanet] 25 / 7739
6
 (HPO:0001596) Alopecia Occasional [Orphanet] occasional [HPO] 12668600 IBIS 162 / 7739
7
 (HPO:0001291) Abnormality of the cranial nerves Occasional [Orphanet] 27 / 7739
8
 (HPO:0001631) Atria septal defect Very frequent [Orphanet] 274 / 7739
9
 (HPO:0001671) Abnormality of the cardiac septa 55 / 7739
10
 (HPO:0001805) Thick nail Occasional [Orphanet] 96 / 7739
11
 (HPO:0000963) Thin skin Very frequent [Orphanet] 96 / 7739
12
 (HPO:0000988) Skin rash Very frequent [Orphanet] 98 / 7739
13
 (HPO:0009775) Amniotic constriction ring Very frequent [Orphanet] 21 / 7739
14
 (HPO:0000962) Hyperkeratosis Occasional [Orphanet] common [HPO] 10710233 IBIS 216 / 7739
15
 (HPO:0030680) Abnormality of cardiovascular system morphology Occasional [Orphanet] 355 / 7739
16
 (HPO:0001371) Flexion contracture occasional [HPO] 10710233 IBIS 220 / 7739
17
 (HPO:0003394) Muscle cramps Very frequent [Orphanet] 106 / 7739
18
 (HPO:0002225) Sparse pubic hair Occasional [Orphanet] 76 / 7739
19
 (HPO:0002120) Cerebral cortical atrophy Frequent [Orphanet] 187 / 7739
20
 (HPO:0100026) Arteriovenous malformation Occasional [Orphanet] 38 / 7739
21
 (HPO:0000924) Abnormality of the skeletal system Very frequent [Orphanet] 114 / 7739
22
 (HPO:0000072) Hydroureter Occasional [Orphanet] 146 / 7739
23
 (HPO:0000126) Hydronephrosis 119 / 7739
24
 (HPO:0000912) Sprengel anomaly Very frequent [Orphanet] 51 / 7739
25
 (HPO:0010783) Erythema Very frequent [Orphanet] 138 / 7739
26
 (HPO:0000365) Hearing impairment Occasional [Orphanet] rare [HPO] 539 / 7739
27
 (HPO:0001654) Abnormality of the heart valves Occasional [Orphanet] 49 / 7739
28
 (HPO:0008064) Ichthyosis Very frequent [Orphanet] 108 / 7739
29
 (HPO:0002808) Kyphosis Occasional [Orphanet] 289 / 7739
30
 (HPO:0005930) Abnormality of epiphysis morphology Occasional [Orphanet] 119 / 7739
31
 (HPO:0000772) Abnormality of the ribs Very frequent [Orphanet] 146 / 7739
32
 (HPO:0001511) Intrauterine growth retardation Occasional [Orphanet] 358 / 7739
33
 (HPO:0001629) Ventricular septal defect Occasional [Orphanet] 316 / 7739
34
 (HPO:0000834) Abnormality of the adrenal glands Occasional [Orphanet] 14 / 7739
35
 (HPO:0004383) Hypoplastic left heart Very frequent [Orphanet] 29 / 7739
36
 (HPO:0002475) Myelomeningocele Occasional [Orphanet] 29 / 7739
37
 (HPO:0001597) Abnormality of the nail Occasional [Orphanet] common [HPO] 12668600 IBIS 115 / 7739
38
 (HPO:0000958) Dry skin Occasional [Orphanet] 152 / 7739
39
 (HPO:0000137) Abnormality of the ovary Occasional [Orphanet] 41 / 7739
40
 (HPO:0000204) Cleft upper lip 193 / 7739
41
 (HPO:0000347) Micrognathia rare [HPO] 426 / 7739
42
 (HPO:0000773) Short ribs occasional [HPO] 10710233 IBIS 70 / 7739
43
 (HPO:0000835) Adrenal hypoplasia rare [HPO] 23 / 7739
44
 (HPO:0000882) Hypoplastic scapulae occasional [HPO] 28 / 7739
45
 (HPO:0000894) Short clavicles occasional [HPO] 10710233 IBIS 30 / 7739
46
 (HPO:0001036) Parakeratosis common [HPO] 10710233 IBIS 12 / 7739
47
 (HPO:0001256) Intellectual disability, mild 141 / 7739
48
 (HPO:0001374) Congenital hip dislocation occasional [HPO] 10710233 IBIS 51 / 7739
49
 (HPO:0001537) Umbilical hernia 206 / 7739
50
 (HPO:0001750) Single ventricle 3 / 7739
51
 (HPO:0002650) Scoliosis occasional [HPO] 10710233 IBIS 705 / 7739
52
 (HPO:0002977) Aplasia/Hypoplasia involving the central nervous system rare [HPO] 4 / 7739
53
 (HPO:0003462) Elevated 8-dehydrocholesterol occasional [HPO] 10710233 IBIS 2 / 7739
54
 (HPO:0003465) Elevated 8(9)-cholestenol occasional [HPO] 10710233 IBIS 2 / 7739
55
 (HPO:0004322) Short stature occasional [HPO] 12668600 IBIS 1232 / 7739
56
 (HPO:0005990) Thyroid hypoplasia rare [HPO] 21 / 7739
57
 (HPO:0006703) Aplasia/Hypoplasia of the lungs Occasional [Orphanet] 79 / 7739
58
 (HPO:0007431) Congenital ichthyosiform erythroderma obligate [HPO] 12668600 IBIS 17 / 7739
59
 (HPO:0008417) Vertebral hypoplasia occasional [HPO] 10710233 IBIS 6 / 7739
60
 (HPO:0008678) Renal hypoplasia/aplasia Occasional [Orphanet] occasional [HPO] 10710233 IBIS 127 / 7739
61
 (HPO:0008839) Hypoplastic pelvis occasional [HPO] 18 / 7739
62
 (HPO:0008883) Mild intrauterine growth retardation 2 / 7739
63
 (HPO:0009751) Aplasia of the pectoralis major muscle Very frequent [Orphanet] 8 / 7739
64
 (HPO:0009815) Aplasia/hypoplasia of the extremities hallmark [HPO] 12668600 IBIS 6 / 7739
65
 (HPO:0010655) Epiphyseal stippling hallmark [HPO] 12668600 IBIS 32 / 7739
66
 (OMIM) Single coronary ostium 1 / 7739
67
 (OMIM) Ipsilateral lung hypoplasia 1 / 7739
68
 (OMIM) Unilateral clavicular, scapular, rib hypoplasia 1 / 7739
69
 (OMIM) Ipsilateral ovarian hypoplasia 1 / 7739
70
 (OMIM) Ipsilateral fallopian tube hypoplasia 1 / 7739
71
 (OMIM) Ipsilateral renal agenesis 1 / 7739
72
 (OMIM) Ipsilateral mandibular hypoplasia 1 / 7739
73
 (OMIM) Unilateral pelvic hypoplasia 1 / 7739
74
 (OMIM) Unilateral hypomelia (digital hypoplasia to complete limb absence) 1 / 7739
75
 (OMIM) Elbow webbing 1 / 7739
76
 (OMIM) Knee webbing 1 / 7739
77
 (OMIM) Ipsilateral epiphyseal stippling 1 / 7739
78
 (OMIM) Unilateral erythema and scaling (present at birth or soon after birth, face is spared) 1 / 7739
79
 (OMIM) Sharp midline demarcation 1 / 7739
80
 (HPO:0001806) Onycholysis 20 / 7739
81
 (OMIM) Destruction of nails 1 / 7739
82
 (OMIM) Unilateral alopecia 1 / 7739
83
 (OMIM) Ipsilateral brain hypoplasia 1 / 7739
84
 (OMIM) Ipsilateral cranial nerve hypoplasia 1 / 7739
85
 (OMIM) Ipsilateral thyroid gland hypoplasia 1 / 7739
86
 (OMIM) Ipsilateral adrenal gland hypoplasia 1 / 7739
87
 (HPO:0000174) Abnormality of the palate Occasional [Orphanet] 298 / 7739
88
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
89
 (HPO:0040065) Abnormal morphology of bones of the upper limbs Very frequent [Orphanet] 25 / 7739
90
 (HPO:0003474) Sensory impairment Occasional [Orphanet] 54 / 7739
91
 (HPO:0009115) Aplasia/hypoplasia involving the skeleton Very frequent [Orphanet] 7 / 7739
92
 (HPO:0001423) X-linked dominant inheritance 69 / 7739
93
 (HPO:0001425) Heterogeneous 132 / 7739
94
 (HPO:0003826) Stillbirth 99% [HPO] 40 / 7739
95
 (HPO:0030680) Abnormality of cardiovascular system morphology occasional [HPO] 355 / 7739