1
|
(HPO:0001195)
|
Single umbilical artery |
Occasional [Orphanet]
|
|
|
|
23 / 7739
|
2
|
(HPO:0002007)
|
Frontal bossing |
Very frequent [Orphanet]
|
|
|
|
366 / 7739
|
3
|
(HPO:0000431)
|
Wide nasal bridge |
Very frequent [Orphanet]
|
|
|
|
290 / 7739
|
4
|
(HPO:0000089)
|
Renal hypoplasia |
|
|
|
|
78 / 7739
|
5
|
(HPO:0000411)
|
Protruding ear |
Very frequent [Orphanet]
|
|
|
|
140 / 7739
|
6
|
(HPO:0000316)
|
Hypertelorism |
Very frequent [Orphanet]
|
|
|
|
644 / 7739
|
7
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
8
|
(HPO:0002997)
|
Abnormality of the ulna |
Very frequent [Orphanet]
|
|
|
|
75 / 7739
|
9
|
(HPO:0003022)
|
Hypoplasia of the ulna |
|
|
|
|
40 / 7739
|
10
|
(HPO:0000494)
|
Downslanted palpebral fissures |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
11
|
(HPO:0100016)
|
Abnormality of mesentery morphology |
Occasional [Orphanet]
|
|
|
|
7 / 7739
|
12
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
Occasional [Orphanet]
|
|
|
|
355 / 7739
|
13
|
(HPO:0005280)
|
Depressed nasal bridge |
Very frequent [Orphanet]
|
|
|
|
381 / 7739
|
14
|
(HPO:0000308)
|
Microretrognathia |
Very frequent [Orphanet]
|
|
|
|
78 / 7739
|
15
|
(HPO:0001561)
|
Polyhydramnios |
Very frequent [Orphanet]
|
|
|
|
191 / 7739
|
16
|
(HPO:0002991)
|
Abnormality of the fibula |
Very frequent [Orphanet]
|
|
|
|
49 / 7739
|
17
|
(HPO:0000049)
|
Shawl scrotum |
Occasional [Orphanet]
|
|
|
|
31 / 7739
|
18
|
(HPO:0001629)
|
Ventricular septal defect |
Occasional [Orphanet]
|
|
|
|
316 / 7739
|
19
|
(HPO:0001622)
|
Premature birth |
Very frequent [Orphanet]
|
|
|
|
100 / 7739
|
20
|
(HPO:0000054)
|
Micropenis |
Occasional [Orphanet]
|
|
|
|
257 / 7739
|
21
|
(HPO:0000377)
|
Abnormality of the pinna |
|
|
|
|
111 / 7739
|
22
|
(HPO:0001159)
|
Syndactyly |
|
|
|
|
140 / 7739
|
23
|
(HPO:0001660)
|
Truncus arteriosus |
|
|
|
|
21 / 7739
|
24
|
(HPO:0002093)
|
Respiratory insufficiency |
|
|
|
|
410 / 7739
|
25
|
(HPO:0003027)
|
Mesomelia |
|
|
|
|
58 / 7739
|
26
|
(HPO:0006101)
|
Finger syndactyly |
Very frequent [Orphanet]
|
|
|
|
198 / 7739
|
27
|
(HPO:0008678)
|
Renal hypoplasia/aplasia |
Occasional [Orphanet]
|
|
|
|
127 / 7739
|
28
|
(HPO:0000113)
|
Polycystic kidney dysplasia |
|
|
|
|
75 / 7739
|
29
|
(HPO:0000800)
|
Cystic renal dysplasia |
|
|
|
|
31 / 7739
|
30
|
(OMIM)
|
Fibular agenesis |
|
|
|
|
1 / 7739
|
31
|
(OMIM)
|
Oligosyndactyly |
|
|
|
|
2 / 7739
|
32
|
(HPO:0011420)
|
Death |
Very frequent [Orphanet]
|
|
|
|
184 / 7739
|
33
|
(HPO:0012581)
|
Solitary renal cyst |
Very frequent [Orphanet]
|
|
|
|
7 / 7739
|
34
|
(HPO:0000277)
|
Abnormality of the mandible |
Very frequent [Orphanet]
|
|
|
|
394 / 7739
|
35
|
(HPO:0040064)
|
Abnormality of limbs |
Very frequent [Orphanet]
|
|
|
|
16 / 7739
|
36
|
(HPO:0000035)
|
Abnormality of the testis |
Occasional [Orphanet]
|
|
|
|
296 / 7739
|
37
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
38
|
(HPO:0000107)
|
Renal cyst |
|
|
|
|
126 / 7739
|
39
|
(HPO:0002878)
|
Respiratory failure |
|
|
|
|
57 / 7739
|
40
|
(HPO:0003811)
|
Neonatal death |
|
|
|
|
44 / 7739
|