Symptom Information: Sort according to HPO 

1
 (HPO:0000233) Thin vermilion border Frequent [Orphanet] 124 / 7739
2
 (HPO:0000308) Microretrognathia Frequent [Orphanet] 78 / 7739
3
 (HPO:0005930) Abnormality of epiphysis morphology Frequent [Orphanet] 119 / 7739
4
 (HPO:0002101) Abnormal lung lobation Frequent [Orphanet] 33 / 7739
5
 (HPO:0003312) Abnormal form of the vertebral bodies Frequent [Orphanet] 172 / 7739
6
 (HPO:0006487) Bowing of the long bones Very frequent [Orphanet] 95 / 7739
7
 (HPO:0000278) Retrognathia 100 / 7739
8
 (HPO:0000944) Abnormality of the metaphyses Frequent [Orphanet] 141 / 7739
9
 (HPO:0003027) Mesomelia Very frequent [Orphanet] 58 / 7739
10
 (HPO:0005011) Mesomelic arm shortening 13 / 7739
11
 (HPO:0003042) Elbow dislocation Very frequent [Orphanet] 89 / 7739
12
 (HPO:0001385) Hip dysplasia Very frequent [Orphanet] 242 / 7739
13
 (HPO:0010650) Hypoplasia of the premaxilla Frequent [Orphanet] 39 / 7739
14
 (HPO:0001163) Abnormality of the metacarpal bones Frequent [Orphanet] 149 / 7739
15
 (HPO:0002979) Bowing of the legs 28 / 7739
16
 (HPO:0004987) Mesomelic leg shortening 3 / 7739
17
 (HPO:0006488) Bowing of the arm 2 / 7739
18
 (HPO:0006703) Aplasia/Hypoplasia of the lungs Frequent [Orphanet] 79 / 7739
19
 (HPO:0100490) Camptodactyly of finger Very frequent [Orphanet] 212 / 7739
20
 (HPO:0008544) Abnormally folded helix Frequent [Orphanet] 24 / 7739
21
 (HPO:0000174) Abnormality of the palate Very frequent [Orphanet] 298 / 7739
22
 (HPO:0200040) Epidermoid cyst Very frequent [Orphanet] 35 / 7739
23
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
24
 (HPO:0011420) Death Frequent [Orphanet] 184 / 7739
25
 (HPO:0000357) Abnormal location of ears Frequent [Orphanet] 328 / 7739
26
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
27
 (HPO:0000175) Cleft palate 349 / 7739
28
 (HPO:0000347) Micrognathia 426 / 7739