Symptom Information: Sort according to HPO 

1
 (HPO:0000077) Abnormality of the kidney Occasional [Orphanet] 73 / 7739
2
 (HPO:0000238) Hydrocephalus Occasional [Orphanet] 278 / 7739
3
 (HPO:0000256) Macrocephaly Very frequent [Orphanet] 298 / 7739
4
 (HPO:0000365) Hearing impairment Frequent [Orphanet] 539 / 7739
5
 (HPO:0000520) Proptosis Frequent [Orphanet] 192 / 7739
6
 (HPO:0000774) Narrow chest Very frequent [Orphanet] 167 / 7739
7
 (HPO:0000926) Platyspondyly Very frequent [Orphanet] 150 / 7739
8
 (HPO:0000944) Abnormality of the metaphyses Very frequent [Orphanet] 141 / 7739
9
 (HPO:0000956) Acanthosis nigricans Occasional [Orphanet] 54 / 7739
10
 (HPO:0001582) Redundant skin Very frequent [Orphanet] 51 / 7739
11
 (HPO:0001250) Seizures Frequent [Orphanet] 1245 / 7739
12
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
13
 (HPO:0001561) Polyhydramnios Frequent [Orphanet] 191 / 7739
14
 (HPO:0001631) Atria septal defect Occasional [Orphanet] 274 / 7739
15
 (HPO:0001643) Patent ductus arteriosus Occasional [Orphanet] 228 / 7739
16
 (HPO:0002007) Frontal bossing Frequent [Orphanet] 366 / 7739
17
 (HPO:0002084) Encephalocele Occasional [Orphanet] 70 / 7739
18
 (HPO:0002093) Respiratory insufficiency Very frequent [Orphanet] 410 / 7739
19
 (HPO:0002119) Ventriculomegaly Frequent [Orphanet] 253 / 7739
20
 (HPO:0002652) Skeletal dysplasia Very frequent [Orphanet] 113 / 7739
21
 (HPO:0002676) Cloverleaf skull Very frequent [Orphanet] 14 / 7739
22
 (HPO:0002808) Kyphosis Frequent [Orphanet] 289 / 7739
23
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
24
 (HPO:0005280) Depressed nasal bridge Very frequent [Orphanet] 381 / 7739
25
 (HPO:0006703) Aplasia/Hypoplasia of the lungs Very frequent [Orphanet] 79 / 7739
26
 (HPO:0005257) Thoracic hypoplasia Very frequent [Orphanet] 79 / 7739
27
 (HPO:0010880) Increased nuchal translucency Frequent [Orphanet] 13 / 7739
28
 (HPO:0001387) Joint stiffness Occasional [Orphanet] 322 / 7739
29
 (HPO:0002536) Abnormal cortical gyration Occasional [Orphanet] 72 / 7739
30
 (HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
31
 (HPO:0012368) Flat face Very frequent [Orphanet] 106 / 7739
32
 (HPO:0011420) Death Very frequent [Orphanet] 184 / 7739
33
 (HPO:0012443) Abnormality of brain morphology Occasional [Orphanet] 45 / 7739
34
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
35
 (HPO:0008905) Rhizomelia Very frequent [Orphanet] 85 / 7739