|
1
|
(HPO:0001387)
|
Joint stiffness |
Frequent [Orphanet]
|
|
|
|
322 / 7739
|
|
2
|
(HPO:0001195)
|
Single umbilical artery |
Frequent [Orphanet]
|
|
|
|
23 / 7739
|
|
3
|
(HPO:0000262)
|
Turricephaly |
Frequent [Orphanet]
|
|
|
|
38 / 7739
|
|
4
|
(HPO:0004599)
|
Absent or minimally ossified vertebral bodies |
Frequent [Orphanet]
|
|
|
|
18 / 7739
|
|
5
|
(HPO:0000921)
|
Missing ribs |
Frequent [Orphanet]
|
|
|
|
62 / 7739
|
|
6
|
(HPO:0000171)
|
Microglossia |
Frequent [Orphanet]
|
|
|
|
27 / 7739
|
|
7
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
|
8
|
(HPO:0000089)
|
Renal hypoplasia |
|
|
|
|
78 / 7739
|
|
9
|
(HPO:0000104)
|
Renal agenesis |
|
|
|
|
68 / 7739
|
|
10
|
(HPO:0007370)
|
Aplasia/Hypoplasia of the corpus callosum |
Frequent [Orphanet]
|
|
|
|
180 / 7739
|
|
11
|
(HPO:0000465)
|
Webbed neck |
Frequent [Orphanet]
|
|
|
|
81 / 7739
|
|
12
|
(HPO:0001511)
|
Intrauterine growth retardation |
Very frequent [Orphanet]
|
|
|
|
358 / 7739
|
|
13
|
(HPO:0010297)
|
Bifid tongue |
Frequent [Orphanet]
|
|
|
|
17 / 7739
|
|
14
|
(HPO:0100016)
|
Abnormality of mesentery morphology |
Frequent [Orphanet]
|
|
|
|
7 / 7739
|
|
15
|
(HPO:0002997)
|
Abnormality of the ulna |
Frequent [Orphanet]
|
|
|
|
75 / 7739
|
|
16
|
(HPO:0001161)
|
Hand polydactyly |
Very frequent [Orphanet]
|
|
|
|
71 / 7739
|
|
17
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
Very frequent [Orphanet]
|
|
|
|
355 / 7739
|
|
18
|
(HPO:0001562)
|
Oligohydramnios |
Very frequent [Orphanet]
|
|
|
|
75 / 7739
|
|
19
|
(HPO:0000204)
|
Cleft upper lip |
|
|
|
|
193 / 7739
|
|
20
|
(HPO:0001163)
|
Abnormality of the metacarpal bones |
Frequent [Orphanet]
|
|
|
|
149 / 7739
|
|
21
|
(HPO:0004383)
|
Hypoplastic left heart |
|
|
|
|
29 / 7739
|
|
22
|
(HPO:0006703)
|
Aplasia/Hypoplasia of the lungs |
Very frequent [Orphanet]
|
|
|
|
79 / 7739
|
|
23
|
(HPO:0008678)
|
Renal hypoplasia/aplasia |
Very frequent [Orphanet]
|
|
|
|
127 / 7739
|
|
24
|
(HPO:0010442)
|
Polydactyly |
|
|
|
|
69 / 7739
|
|
25
|
(OMIM)
|
Potter sequence |
|
|
|
|
2 / 7739
|
|
26
|
(OMIM)
|
Skeletal defects |
|
|
|
|
1 / 7739
|
|
27
|
(HPO:0000202)
|
Oral cleft |
|
|
|
|
120 / 7739
|
|
28
|
(OMIM)
|
Complex congenital heart defect |
|
|
|
|
3 / 7739
|
|
29
|
(OMIM)
|
Hypoplastic left heart sequence |
|
|
|
|
1 / 7739
|
|
30
|
(HPO:0400004)
|
Long ear |
Frequent [Orphanet]
|
|
|
|
94 / 7739
|
|
31
|
(HPO:0011420)
|
Death |
Very frequent [Orphanet]
|
|
|
|
184 / 7739
|
|
32
|
(HPO:0000357)
|
Abnormal location of ears |
Frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
33
|
(HPO:0000174)
|
Abnormality of the palate |
Very frequent [Orphanet]
|
|
|
|
298 / 7739
|
|
34
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|