1
|
(HPO:0000457)
|
Depressed nasal ridge |
Frequent [Orphanet]
|
|
|
|
85 / 7739
|
2
|
(HPO:0000233)
|
Thin vermilion border |
Frequent [Orphanet]
|
|
|
|
124 / 7739
|
3
|
(HPO:0000252)
|
Microcephaly |
Frequent [Orphanet]
|
|
|
|
832 / 7739
|
4
|
(HPO:0001561)
|
Polyhydramnios |
Frequent [Orphanet]
|
|
|
|
191 / 7739
|
5
|
(HPO:0001252)
|
Muscular hypotonia |
Frequent [Orphanet]
|
|
|
|
990 / 7739
|
6
|
(HPO:0001541)
|
Ascites |
Frequent [Orphanet]
|
|
|
|
94 / 7739
|
7
|
(HPO:0000160)
|
Narrow mouth |
Frequent [Orphanet]
|
|
|
|
188 / 7739
|
8
|
(HPO:0001903)
|
Anemia |
Very frequent [Orphanet]
|
|
|
|
289 / 7739
|
9
|
(HPO:0002093)
|
Respiratory insufficiency |
Very frequent [Orphanet]
|
|
|
|
410 / 7739
|
10
|
(HPO:0001744)
|
Splenomegaly |
Frequent [Orphanet]
|
|
|
|
337 / 7739
|
11
|
(HPO:0001928)
|
Abnormality of coagulation |
Frequent [Orphanet]
|
|
|
|
44 / 7739
|
12
|
(HPO:0001852)
|
Sandal gap |
Very frequent [Orphanet]
|
|
|
|
63 / 7739
|
13
|
(HPO:0000054)
|
Micropenis |
Very frequent [Orphanet]
|
|
|
|
257 / 7739
|
14
|
(HPO:0001562)
|
Oligohydramnios |
Very frequent [Orphanet]
|
|
|
|
75 / 7739
|
15
|
(HPO:0000047)
|
Hypospadias |
Frequent [Orphanet]
|
|
|
|
250 / 7739
|
16
|
(HPO:0000929)
|
Abnormality of the skull |
Very frequent [Orphanet]
|
|
|
|
53 / 7739
|
17
|
(HPO:0000069)
|
Abnormality of the ureter |
Very frequent [Orphanet]
|
|
|
|
47 / 7739
|
18
|
(HPO:0000363)
|
Abnormality of earlobe |
|
|
|
|
4 / 7739
|
19
|
(HPO:0000811)
|
Abnormal external genitalia |
|
|
|
|
6 / 7739
|
20
|
(HPO:0001433)
|
Hepatosplenomegaly |
|
|
|
|
78 / 7739
|
21
|
(HPO:0001869)
|
Deep plantar creases |
|
|
|
|
14 / 7739
|
22
|
(HPO:0001878)
|
Hemolytic anemia |
|
|
|
|
83 / 7739
|
23
|
(HPO:0005469)
|
Flat occiput |
|
|
|
|
30 / 7739
|
24
|
(HPO:0006703)
|
Aplasia/Hypoplasia of the lungs |
Frequent [Orphanet]
|
|
|
|
79 / 7739
|
25
|
(HPO:0008678)
|
Renal hypoplasia/aplasia |
Frequent [Orphanet]
|
|
|
|
127 / 7739
|
26
|
(OMIM)
|
Lethal congenital nonspherocytic, nonimmune hemolytic anemia |
|
|
|
|
1 / 7739
|
27
|
(OMIM)
|
Abdomen. Ascites |
|
|
|
|
1 / 7739
|
28
|
(OMIM)
|
Dimpled earlobes |
|
|
|
|
1 / 7739
|
29
|
(HPO:0011420)
|
Death |
Very frequent [Orphanet]
|
|
|
|
184 / 7739
|
30
|
(HPO:0000079)
|
Abnormality of the urinary system |
Very frequent [Orphanet]
|
|
|
|
88 / 7739
|
31
|
(HPO:0000277)
|
Abnormality of the mandible |
Frequent [Orphanet]
|
|
|
|
394 / 7739
|