|
1
|
(HPO:0002089)
|
Pulmonary hypoplasia |
|
|
|
|
80 / 7739
|
|
2
|
(HPO:0000112)
|
Nephropathy |
Occasional [Orphanet]
|
|
|
|
92 / 7739
|
|
3
|
(HPO:0000252)
|
Microcephaly |
Occasional [Orphanet]
|
|
|
|
832 / 7739
|
|
4
|
(HPO:0001561)
|
Polyhydramnios |
Very frequent [Orphanet]
|
|
|
|
191 / 7739
|
|
5
|
(HPO:0000113)
|
Polycystic kidney dysplasia |
Very frequent [Orphanet]
|
|
|
|
75 / 7739
|
|
6
|
(HPO:0000316)
|
Hypertelorism |
Very frequent [Orphanet]
|
|
|
|
644 / 7739
|
|
7
|
(HPO:0000954)
|
Single transverse palmar crease |
Occasional [Orphanet]
|
|
|
|
162 / 7739
|
|
8
|
(HPO:0000124)
|
Renal tubular dysfunction |
Very frequent [Orphanet]
|
|
|
|
46 / 7739
|
|
9
|
(HPO:0001622)
|
Premature birth |
Very frequent [Orphanet]
|
|
|
|
100 / 7739
|
|
10
|
(HPO:0001382)
|
Joint hypermobility |
Very frequent [Orphanet]
|
|
|
|
231 / 7739
|
|
11
|
(HPO:0001562)
|
Oligohydramnios |
Occasional [Orphanet]
|
|
|
|
75 / 7739
|
|
12
|
(HPO:0001636)
|
Tetralogy of Fallot |
Occasional [Orphanet]
|
|
|
|
104 / 7739
|
|
13
|
(HPO:0002009)
|
Potter facies |
|
|
|
|
8 / 7739
|
|
14
|
(HPO:0002093)
|
Respiratory insufficiency |
|
|
|
|
410 / 7739
|
|
15
|
(HPO:0002615)
|
Hypotension |
|
|
|
|
52 / 7739
|
|
16
|
(HPO:0004492)
|
Widely patent fontanelles and sutures |
|
|
|
|
11 / 7739
|
|
17
|
(HPO:0006703)
|
Aplasia/Hypoplasia of the lungs |
Very frequent [Orphanet]
|
|
|
|
79 / 7739
|
|
18
|
(HPO:0100519)
|
Anuria |
|
|
|
|
20 / 7739
|
|
19
|
(OMIM)
|
Hypotension, severe |
|
|
|
|
2 / 7739
|
|
20
|
(OMIM)
|
Pulmonary hypoplasia secondary to oligohydramnios |
|
|
|
|
2 / 7739
|
|
21
|
(OMIM)
|
Neonatal respiratory failure due to pulmonary hypoplasia |
|
|
|
|
2 / 7739
|
|
22
|
(OMIM)
|
Renal tubular dysgenesis |
|
|
|
|
2 / 7739
|
|
23
|
(OMIM)
|
Kidney biopsy shows absence of differentiated proximal tubules |
|
|
|
|
2 / 7739
|
|
24
|
(OMIM)
|
Primitive renal tubules may exist |
|
|
|
|
2 / 7739
|
|
25
|
(OMIM)
|
Thickening of renal arterial walls |
|
|
|
|
2 / 7739
|
|
26
|
(OMIM)
|
Hypoplasia of the membranous bones of the skull |
|
|
|
|
2 / 7739
|
|
27
|
(OMIM)
|
Underdeveloped membranous cranial bones |
|
|
|
|
2 / 7739
|
|
28
|
(OMIM)
|
Calvaria hypoplasia |
|
|
|
|
2 / 7739
|
|
29
|
(HPO:0010537)
|
Wide cranial sutures |
|
|
|
|
21 / 7739
|
|
30
|
(HPO:0000239)
|
Large fontanelles |
|
|
|
|
135 / 7739
|
|
31
|
(OMIM)
|
Oligohydramnios, severe |
|
|
|
|
2 / 7739
|
|
32
|
(OMIM)
|
Fetal anuria |
|
|
|
|
2 / 7739
|
|
33
|
(HPO:0011420)
|
Death |
Very frequent [Orphanet]
|
|
|
|
184 / 7739
|
|
34
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
35
|
(HPO:0008660)
|
Renotubular dysgenesis |
|
|
|
|
1 / 7739
|