|
1
|
(HPO:0000105)
|
Enlarged kidneys |
|
|
|
|
30 / 7739
|
|
2
|
(HPO:0000263)
|
Oxycephaly |
|
|
|
|
10 / 7739
|
|
3
|
(HPO:0000286)
|
Epicanthus |
|
|
|
|
371 / 7739
|
|
4
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
|
5
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
6
|
(HPO:0000377)
|
Abnormality of the pinna |
|
|
|
|
111 / 7739
|
|
7
|
(HPO:0000470)
|
Short neck |
|
|
|
|
345 / 7739
|
|
8
|
(HPO:0000582)
|
Upslanted palpebral fissure |
|
|
|
|
185 / 7739
|
|
9
|
(HPO:0000800)
|
Cystic renal dysplasia |
|
|
|
|
31 / 7739
|
|
10
|
(HPO:0001162)
|
Postaxial hand polydactyly |
|
|
|
|
119 / 7739
|
|
11
|
(HPO:0001363)
|
Craniosynostosis |
|
|
|
|
132 / 7739
|
|
12
|
(HPO:0011324)
|
Multiple suture craniosynostosis |
|
|
|
|
22 / 7739
|
|
13
|
(HPO:0001395)
|
Hepatic fibrosis |
|
|
|
|
67 / 7739
|
|
14
|
(HPO:0001539)
|
Omphalocele |
variable [HPO:skoehler]
|
|
|
|
102 / 7739
|
|
15
|
(HPO:0001541)
|
Ascites |
|
|
|
|
94 / 7739
|
|
16
|
(HPO:0001748)
|
Polysplenia |
|
|
|
|
14 / 7739
|
|
17
|
(HPO:0002089)
|
Pulmonary hypoplasia |
|
|
|
|
80 / 7739
|
|
18
|
(HPO:0002240)
|
Hepatomegaly |
|
|
|
|
467 / 7739
|
|
19
|
(HPO:0002983)
|
Micromelia |
|
|
|
|
130 / 7739
|
|
20
|
(HPO:0003196)
|
Short nose |
|
|
|
|
264 / 7739
|
|
21
|
(HPO:0004790)
|
Hypoplasia of the small intestine |
|
|
|
|
1 / 7739
|
|
22
|
(HPO:0005210)
|
Hypoplastic colon |
|
|
|
|
2 / 7739
|
|
23
|
(HPO:0006544)
|
Extrapulmonary sequestrum |
|
|
|
|
1 / 7739
|
|
24
|
(HPO:0100732)
|
Pancreatic fibrosis |
variable [HPO:skoehler]
|
|
|
|
12 / 7739
|
|
25
|
(OMIM)
|
Increased birth weight |
|
|
|
|
6 / 7739
|
|
26
|
(OMIM)
|
Swollen globular body |
|
|
|
|
1 / 7739
|
|
27
|
(OMIM)
|
Bloated face |
|
|
|
|
2 / 7739
|
|
28
|
(OMIM)
|
Abnormally folded ears |
|
|
|
|
1 / 7739
|
|
29
|
(OMIM)
|
Skin folds around the neck |
|
|
|
|
1 / 7739
|
|
30
|
(HPO:0001537)
|
Umbilical hernia |
|
|
|
|
206 / 7739
|
|
31
|
(OMIM)
|
Perivascular nerve fiber proliferation |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
Periportal and perivenular fibrosis |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Bowel hypoplasia (less common) |
|
|
|
|
1 / 7739
|
|
34
|
(OMIM)
|
Bowel atresia (less common) |
|
|
|
|
1 / 7739
|
|
35
|
(HPO:0004440)
|
Coronal craniosynostosis |
|
|
|
|
38 / 7739
|
|
36
|
(HPO:0001161)
|
Hand polydactyly |
|
|
|
|
71 / 7739
|
|
37
|
(HPO:0001829)
|
Foot polydactyly |
|
|
|
|
41 / 7739
|
|
38
|
(HPO:0010442)
|
Polydactyly |
|
|
|
|
69 / 7739
|
|
39
|
(HPO:0001072)
|
Thickened skin |
|
|
|
|
87 / 7739
|
|
40
|
(OMIM)
|
Redundant connective tissue |
|
|
|
|
1 / 7739
|
|
41
|
(OMIM)
|
Increased placental weight |
|
|
|
|
1 / 7739
|
|
42
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
43
|
(HPO:0003812)
|
Phenotypic variability |
|
|
|
|
129 / 7739
|