Symptom Information: Sort according to HPO 

1
 (HPO:0000130) Abnormality of the uterus Occasional [Orphanet] 86 / 7739
2
 (HPO:0011304) Broad thumb typical [HPO] 39 / 7739
3
 (HPO:0004760) Congenital septal defect Occasional [Orphanet] 69 / 7739
4
 (HPO:0003045) Abnormality of the patella Frequent [Orphanet] 33 / 7739
5
 (HPO:0001052) Nevus flammeus Occasional [Orphanet] 88 / 7739
6
 (HPO:0001928) Abnormality of coagulation Very frequent [Orphanet] 44 / 7739
7
 (HPO:0000347) Micrognathia 426 / 7739
8
 (HPO:0002992) Abnormality of the tibia Frequent [Orphanet] 51 / 7739
9
 (HPO:0002997) Abnormality of the ulna Frequent [Orphanet] 75 / 7739
10
 (HPO:0006495) Aplasia/Hypoplasia of the ulna hallmark [HPO] 7 / 7739
11
 (HPO:0001873) Thrombocytopenia Very frequent [Orphanet] 66% [HPO] 224 / 7739
12
 (HPO:0002999) Patellar dislocation Frequent [Orphanet] occasional [HPO] 46 / 7739
13
 (HPO:0003063) Abnormality of the humerus Frequent [Orphanet] 36 / 7739
14
 (HPO:0006507) Aplasia/hypoplasia of the humerus 50% [HPO] 2 / 7739
15
 (HPO:0001385) Hip dysplasia Frequent [Orphanet] 242 / 7739
16
 (HPO:0002673) Coxa valga common [HPO] 57 / 7739
17
 (HPO:0002827) Hip dislocation common [HPO] 94 / 7739
18
 (HPO:0002650) Scoliosis Occasional [Orphanet] 705 / 7739
19
 (HPO:0009829) Phocomelia Occasional [Orphanet] occasional [HPO] 20 / 7739
20
 (HPO:0001636) Tetralogy of Fallot Occasional [Orphanet] occasional [HPO] 104 / 7739
21
 (HPO:0002818) Abnormality of the radius Very frequent [Orphanet] 96 / 7739
22
 (HPO:0002970) Genu varum Frequent [Orphanet] common [HPO] 60 / 7739
23
 (HPO:0002823) Abnormality of the femur Occasional [Orphanet] 61 / 7739
24
 (HPO:0000348) High forehead Frequent [Orphanet] 157 / 7739
25
 (HPO:0000921) Missing ribs Occasional [Orphanet] 62 / 7739
26
 (HPO:0004209) Clinodactyly of the 5th finger Frequent [Orphanet] common [HPO] 288 / 7739
27
 (HPO:0000085) Horseshoe kidney 39 / 7739
28
 (HPO:0002990) Fibular aplasia rare [HPO] 16 / 7739
29
 (HPO:0002991) Abnormality of the fibula Occasional [Orphanet] 49 / 7739
30
 (HPO:0000337) Broad forehead Frequent [Orphanet] 116 / 7739
31
 (HPO:0000407) Sensorineural hearing impairment Occasional [Orphanet] 524 / 7739
32
 (HPO:0000151) Aplasia of the uterus rare [HPO] 12 / 7739
33
 (HPO:0000248) Brachycephaly 222 / 7739
34
 (HPO:0000272) Malar flattening occasional [HPO] 277 / 7739
35
 (HPO:0000463) Anteverted nares 305 / 7739
36
 (HPO:0000486) Strabismus occasional [HPO] 576 / 7739
37
 (HPO:0000508) Ptosis occasional [HPO] 459 / 7739
38
 (HPO:0000891) Cervical ribs rare [HPO] 8 / 7739
39
 (HPO:0000895) Lateral clavicle hook occasional [HPO] 11 / 7739
40
 (HPO:0001051) Seborrheic dermatitis 25 / 7739
41
 (HPO:0001250) Seizures 1245 / 7739
42
 (HPO:0001249) Intellectual disability 1089 / 7739
43
 (HPO:0001263) Global developmental delay occasional [HPO] 853 / 7739
44
 (HPO:0001270) Motor delay 322 / 7739
45
 (HPO:0001321) Cerebellar hypoplasia occasional [HPO] 114 / 7739
46
 (HPO:0001433) Hepatosplenomegaly occasional [HPO] 78 / 7739
47
 (HPO:0001498) Carpal bone hypoplasia occasional [HPO] 17 / 7739
48
 (HPO:0001629) Ventricular septal defect 316 / 7739
49
 (HPO:0001631) Atria septal defect 274 / 7739
50
 (HPO:0001680) Coarctation of aorta rare [HPO] 57 / 7739
51
 (HPO:0001737) Pancreatic cysts 15 / 7739
52
 (HPO:0001762) Talipes equinovarus occasional [HPO] 309 / 7739
53
 (HPO:0001880) Eosinophilia common [HPO] 35 / 7739
54
 (HPO:0001903) Anemia frequent [HPO] 289 / 7739
55
 (HPO:0002188) Delayed CNS myelination occasional [HPO] 16 / 7739
56
 (HPO:0002245) Meckel diverticulum 12 / 7739
57
 (HPO:0002389) Cavum septum pellucidum occasional [HPO] 13 / 7739
58
 (HPO:0002414) Spina bifida 47 / 7739
59
 (HPO:0002949) Fused cervical vertebrae rare [HPO] 13 / 7739
60
 (HPO:0003043) Abnormality of the shoulder occasional [HPO] 2 / 7739
61
 (HPO:0004313) Decreased antibody level in blood 47 / 7739
62
 (HPO:0004322) Short stature 7% [HPO] 1232 / 7739
63
 (HPO:0004717) Axial malrotation of the kidney rare [HPO] 1 / 7739
64
 (HPO:0004977) Bilateral radial aplasia obligate [HPO] 1 / 7739
65
 (HPO:0006101) Finger syndactyly occasional [HPO] Occasional [Orphanet] 198 / 7739
66
 (HPO:0007413) Nevus flammeus of the forehead occasional [HPO] 1 / 7739
67
 (HPO:0007514) Edema of the dorsum of hands occasional [HPO] 7 / 7739
68
 (HPO:0008952) Shoulder muscle hypoplasia 2 / 7739
69
 (HPO:0009702) Carpal synostosis 26 / 7739
70
 (HPO:0012098) Edema of the dorsum of feet occasional [HPO] 3 / 7739
71
 (HPO:0100327) Cow milk allergy common [HPO] 1 / 7739
72
 (HPO:0100542) Abnormal localization of kidney Occasional [Orphanet] 64 / 7739
73
 (HPO:0100694) Tibial torsion occasional [HPO] 2 / 7739
74
 (OMIM) Small upturned nose 4 / 7739
75
 (OMIM) Lateral clavicular hook 1 / 7739
76
 (OMIM) Abnormal humerus 1 / 7739
77
 (HPO:0001373) Joint dislocation 59 / 7739
78
 (HPO:0003042) Elbow dislocation 89 / 7739
79
 (HPO:0003179) Protrusio acetabuli 37 / 7739
80
 (HPO:0003834) Shoulder dislocation 28 / 7739
81
 (HPO:0003994) Dislocated wrist 24 / 7739
82
 (HPO:0005021) Bilateral elbow dislocations 24 / 7739
83
 (HPO:0012095) Multiple joint dislocation 24 / 7739
84
 (OMIM) Femoral torsion 1 / 7739
85
 (OMIM) Absence of fibula 1 / 7739
86
 (OMIM) Thumbs always present 1 / 7739
87
 (HPO:0009803) Short phalanx of finger occasional [HPO] 79 / 7739
88
 (OMIM) Forehead nevus flammeus 1 / 7739
89
 (OMIM) Arm/shoulder muscle hypoplasia 1 / 7739
90
 (HPO:0001342) Cerebral hemorrhage 24 / 7739
91
 (HPO:0002170) Intracranial hemorrhage 40 / 7739
92
 (HPO:0012448) Delayed myelination 51 / 7739
93
 (OMIM) Absence of the corpus callosum 5 / 7739
94
 (OMIM) Absent or hypoplastic megakaryocytes 1 / 7739
95
 (OMIM) 'Leukemoid' granulocytosis 1 / 7739
96
 (OMIM) Hypercellular bone marrow 1 / 7739
97
 (HPO:0012719) Functional abnormality of the gastrointestinal tract Frequent [Orphanet] 17 / 7739
98
 (HPO:0000277) Abnormality of the mandible Occasional [Orphanet] 394 / 7739
99
 (HPO:0003220) Abnormality of chromosome stability Very frequent [Orphanet] 98 / 7739
100
 (HPO:0000079) Abnormality of the urinary system Occasional [Orphanet] 88 / 7739
101
 (HPO:0001172) Abnormality of the thumb Occasional [Orphanet] 103 / 7739
102
 (HPO:0003422) Vertebral segmentation defect Occasional [Orphanet] 95 / 7739
103
 (HPO:0000174) Abnormality of the palate Occasional [Orphanet] 298 / 7739
104
 (HPO:0000357) Abnormal location of ears Frequent [Orphanet] 328 / 7739
105
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
106
 (HPO:0001181) Adducted thumb typical [HPO] 31 / 7739
107
 (HPO:0001522) Death in infancy 40% [HPO] 275 / 7739
108
 (HPO:0001671) Abnormality of the cardiac septa 15-22% [HPO] 55 / 7739
109
 (HPO:0006443) Patellar aplasia common [HPO] 14 / 7739