Symptom Information: Sort according to HPO 

1
 (HPO:0000130) Abnormality of the uterus Occasional [Orphanet] 86 / 7739
2
 (HPO:0002410) Aqueductal stenosis Frequent [Orphanet] 19 / 7739
3
 (HPO:0009380) Aplasia of the fingers Very frequent [Orphanet] 51 / 7739
4
 (HPO:0000912) Sprengel anomaly Frequent [Orphanet] 51 / 7739
5
 (HPO:0000426) Prominent nasal bridge Very frequent [Orphanet] 121 / 7739
6
 (HPO:0002974) Radioulnar synostosis Frequent [Orphanet] 52 / 7739
7
 (HPO:0001762) Talipes equinovarus Occasional [Orphanet] 309 / 7739
8
 (HPO:0002991) Abnormality of the fibula Frequent [Orphanet] 49 / 7739
9
 (HPO:0003038) Fibular hypoplasia 30 / 7739
10
 (HPO:0003312) Abnormal form of the vertebral bodies Occasional [Orphanet] 172 / 7739
11
 (HPO:0000272) Malar flattening Very frequent [Orphanet] 277 / 7739
12
 (HPO:0001511) Intrauterine growth retardation Occasional [Orphanet] 358 / 7739
13
 (HPO:0000347) Micrognathia 426 / 7739
14
 (HPO:0002997) Abnormality of the ulna Frequent [Orphanet] 75 / 7739
15
 (HPO:0030680) Abnormality of cardiovascular system morphology Frequent [Orphanet] 355 / 7739
16
 (HPO:0002818) Abnormality of the radius Frequent [Orphanet] 96 / 7739
17
 (HPO:0000160) Narrow mouth 188 / 7739
18
 (HPO:0000260) Wide anterior fontanel 55 / 7739
19
 (HPO:0000316) Hypertelorism 644 / 7739
20
 (HPO:0000322) Short philtrum 130 / 7739
21
 (HPO:0000358) Posteriorly rotated ears 163 / 7739
22
 (HPO:0000369) Low-set ears 372 / 7739
23
 (HPO:0000431) Wide nasal bridge 290 / 7739
24
 (HPO:0000448) Prominent nose 56 / 7739
25
 (HPO:0000490) Deeply set eye 131 / 7739
26
 (HPO:0000954) Single transverse palmar crease 162 / 7739
27
 (HPO:0000963) Thin skin 96 / 7739
28
 (HPO:0001199) Triphalangeal thumb 56 / 7739
29
 (HPO:0001814) Deep-set nails 4 / 7739
30
 (HPO:0001845) Overlapping toe 18 / 7739
31
 (HPO:0004322) Short stature 1232 / 7739
32
 (HPO:0005632) Absent forearm 4 / 7739
33
 (HPO:0005736) Short tibia 19 / 7739
34
 (HPO:0006101) Finger syndactyly Occasional [Orphanet] 198 / 7739
35
 (HPO:0008678) Renal hypoplasia/aplasia Occasional [Orphanet] 127 / 7739
36
 (HPO:0012165) Oligodactyly 18 / 7739
37
 (OMIM) Short forehead 1 / 7739
38
 (OMIM) Hypoplastic malar area 1 / 7739
39
 (OMIM) Small auricles 2 / 7739
40
 (OMIM) Absent external auditory meati 1 / 7739
41
 (OMIM) Hypoplastic supra-orbital ridges 1 / 7739
42
 (OMIM) High arch palate 1 / 7739
43
 (OMIM) 11 rib pairs 1 / 7739
44
 (OMIM) Coronal cleft in C2-C5 1 / 7739
45
 (OMIM) Hypoplastic pelvic girdle 1 / 7739
46
 (OMIM) Short proximal arms 1 / 7739
47
 (OMIM) Wide space between the thumbs and the 2nd fingers 1 / 7739
48
 (OMIM) Clinodactyly of the 1st finger 1 / 7739
49
 (OMIM) Absent middle phalanx of the 5th finger 1 / 7739
50
 (OMIM) Hypoplasia of the thenar and hypothenar eminences 1 / 7739
51
 (OMIM) Hypoplasia of the distal phalanx of the 5th toe 1 / 7739
52
 (OMIM) Valgus 1 / 7739
53
 (HPO:0012443) Abnormality of brain morphology Frequent [Orphanet] 45 / 7739
54
 (HPO:0011867) Abnormality of the wing of the ilium Frequent [Orphanet] 123 / 7739
55
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
56
 (HPO:0011420) Death Very frequent [Orphanet] 184 / 7739
57
 (HPO:0008772) Aplasia/Hypoplasia of the external ear Very frequent [Orphanet] 67 / 7739
58
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739