Symptom Information: Sort according to HPO 

1
 (HPO:0000280) Coarse facial features Occasional [Orphanet] 189 / 7739
2
 (HPO:0000268) Dolichocephaly Very frequent [Orphanet] 144 / 7739
3
 (HPO:0006557) Polycystic liver disease 5 / 7739
4
 (HPO:0006706) Cystic liver disease Very frequent [Orphanet] 8 / 7739
5
 (HPO:0012090) Abnormality of pancreas morphology Very frequent [Orphanet] 31 / 7739
6
 (HPO:0001789) Hydrops fetalis Frequent [Orphanet] 63 / 7739
7
 (HPO:0000765) Abnormality of the thorax Frequent [Orphanet] 64 / 7739
8
 (HPO:0030680) Abnormality of cardiovascular system morphology Occasional [Orphanet] 355 / 7739
9
 (HPO:0007495) Prematurely aged appearance Very frequent [Orphanet] 44 / 7739
10
 (HPO:0002652) Skeletal dysplasia Very frequent [Orphanet] 113 / 7739
11
 (HPO:0000921) Missing ribs Very frequent [Orphanet] 62 / 7739
12
 (HPO:0004599) Absent or minimally ossified vertebral bodies Frequent [Orphanet] 18 / 7739
13
 (HPO:0000113) Polycystic kidney dysplasia Very frequent [Orphanet] 75 / 7739
14
 (HPO:0100760) Clubbing of toes Very frequent [Orphanet] 24 / 7739
15
 (HPO:0006487) Bowing of the long bones Very frequent [Orphanet] 95 / 7739
16
 (HPO:0001004) Lymphedema Occasional [Orphanet] 62 / 7739
17
 (HPO:0002240) Hepatomegaly Frequent [Orphanet] 467 / 7739
18
 (HPO:0000476) Cystic hygroma Very frequent [Orphanet] 22 / 7739
19
 (HPO:0002250) Abnormality of the large intestine Occasional [Orphanet] 32 / 7739
20
 (HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
21
 (HPO:0002983) Micromelia Very frequent [Orphanet] 130 / 7739
22
 (HPO:0001562) Oligohydramnios Very frequent [Orphanet] 75 / 7739
23
 (HPO:0001737) Pancreatic cysts 15 / 7739
24
 (HPO:0001748) Polysplenia 14 / 7739
25
 (HPO:0002242) Abnormality of the intestine Occasional [Orphanet] 42 / 7739
26
 (HPO:0004322) Short stature 1232 / 7739
27
 (HPO:0006703) Aplasia/Hypoplasia of the lungs Frequent [Orphanet] 79 / 7739
28
 (HPO:0008056) Aplasia/Hypoplasia affecting the eye Occasional [Orphanet] 142 / 7739
29
 (OMIM) Bowed 1 / 7739
30
 (OMIM) Short 4 / 7739
31
 (OMIM) Cervical lymphocele (cystic hygroma) 1 / 7739
32
 (OMIM) Polycystic dysplasia 1 / 7739
33
 (OMIM) Generalized lymphedema 1 / 7739
34
 (OMIM) Short gut 1 / 7739
35
 (HPO:0200040) Epidermoid cyst Frequent [Orphanet] 35 / 7739
36
 (HPO:0001522) Death in infancy Very frequent [Orphanet] 275 / 7739
37
 (HPO:0000107) Renal cyst Very frequent [Orphanet] 126 / 7739
38
 (HPO:0011420) Death Very frequent [Orphanet] 184 / 7739
39
 (HPO:0000174) Abnormality of the palate Very frequent [Orphanet] 298 / 7739
40
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739