Symptom Information: Sort according to HPO 

1
 (HPO:0009380) Aplasia of the fingers Very frequent [Orphanet] 51 / 7739
2
 (HPO:0002007) Frontal bossing Frequent [Orphanet] 366 / 7739
3
 (HPO:0011220) Prominent forehead 137 / 7739
4
 (HPO:0002974) Radioulnar synostosis Frequent [Orphanet] 52 / 7739
5
 (HPO:0000444) Convex nasal ridge Occasional [Orphanet] 87 / 7739
6
 (HPO:0000089) Renal hypoplasia 78 / 7739
7
 (HPO:0000104) Renal agenesis 68 / 7739
8
 (HPO:0000272) Malar flattening Occasional [Orphanet] 277 / 7739
9
 (HPO:0000411) Protruding ear Occasional [Orphanet] 140 / 7739
10
 (HPO:0000316) Hypertelorism Frequent [Orphanet] 644 / 7739
11
 (HPO:0100240) Synostosis of joints Very frequent [Orphanet] 11 / 7739
12
 (HPO:0000347) Micrognathia 426 / 7739
13
 (HPO:0002997) Abnormality of the ulna Frequent [Orphanet] 75 / 7739
14
 (HPO:0003022) Hypoplasia of the ulna 40 / 7739
15
 (HPO:0000494) Downslanted palpebral fissures Frequent [Orphanet] 328 / 7739
16
 (HPO:0000520) Proptosis Occasional [Orphanet] 192 / 7739
17
 (HPO:0003042) Elbow dislocation Occasional [Orphanet] 89 / 7739
18
 (HPO:0002705) High, narrow palate Occasional [Orphanet] 308 / 7739
19
 (HPO:0001385) Hip dysplasia Occasional [Orphanet] 242 / 7739
20
 (HPO:0002650) Scoliosis Occasional [Orphanet] 705 / 7739
21
 (HPO:0002818) Abnormality of the radius Frequent [Orphanet] 96 / 7739
22
 (HPO:0002984) Hypoplasia of the radius 44 / 7739
23
 (HPO:0000639) Nystagmus Occasional [Orphanet] 555 / 7739
24
 (HPO:0000518) Cataract Occasional [Orphanet] 454 / 7739
25
 (HPO:0010760) Absent toe Occasional [Orphanet] 15 / 7739
26
 (HPO:0000365) Hearing impairment Occasional [Orphanet] 539 / 7739
27
 (HPO:0005048) Synostosis of carpal bones Very frequent [Orphanet] 39 / 7739
28
 (HPO:0000508) Ptosis Occasional [Orphanet] 459 / 7739
29
 (HPO:0000821) Hypothyroidism Occasional [Orphanet] 141 / 7739
30
 (HPO:0001770) Toe syndactyly Frequent [Orphanet] 149 / 7739
31
 (HPO:0001601) Laryngomalacia Occasional [Orphanet] 61 / 7739
32
 (HPO:0003196) Short nose Occasional [Orphanet] 264 / 7739
33
 (HPO:0000682) Abnormality of dental enamel Occasional [Orphanet] 102 / 7739
34
 (HPO:0000322) Short philtrum Occasional [Orphanet] 130 / 7739
35
 (HPO:0007477) Abnormal dermatoglyphics Occasional [Orphanet] 72 / 7739
36
 (HPO:0002983) Micromelia Occasional [Orphanet] 130 / 7739
37
 (HPO:0009601) Aplasia/Hypoplasia of the thumb Frequent [Orphanet] 80 / 7739
38
 (HPO:0000772) Abnormality of the ribs Occasional [Orphanet] 146 / 7739
39
 (HPO:0001159) Syndactyly 140 / 7739
40
 (HPO:0001163) Abnormality of the metacarpal bones Very frequent [Orphanet] 149 / 7739
41
 (HPO:0003422) Vertebral segmentation defect Occasional [Orphanet] 95 / 7739
42
 (HPO:0006101) Finger syndactyly Very frequent [Orphanet] 198 / 7739
43
 (HPO:0008678) Renal hypoplasia/aplasia Occasional [Orphanet] 127 / 7739
44
 (HPO:0009804) Reduced number of teeth Occasional [Orphanet] 137 / 7739
45
 (HPO:0100542) Abnormal localization of kidney Occasional [Orphanet] 64 / 7739
46
 (OMIM) Fused ulna and radius 1 / 7739
47
 (OMIM) Syndactyly, total or partial 1 / 7739
48
 (OMIM) Fused metacarpals 1 / 7739
49
 (OMIM) Malformed phalanges 1 / 7739
50
 (HPO:0001804) Hypoplastic fingernail Very frequent [Orphanet] 62 / 7739
51
 (HPO:0000492) Abnormality of the eyelid Occasional [Orphanet] 41 / 7739
52
 (HPO:0001800) Hypoplastic toenails Frequent [Orphanet] 74 / 7739
53
 (HPO:0000277) Abnormality of the mandible Occasional [Orphanet] 394 / 7739
54
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739