|
1
|
(HPO:0000130)
|
Abnormality of the uterus |
Occasional [Orphanet]
|
|
|
|
86 / 7739
|
|
2
|
(HPO:0004331)
|
Decreased skull ossification |
Very frequent [Orphanet]
|
|
|
|
31 / 7739
|
|
3
|
(HPO:0001539)
|
Omphalocele |
Very frequent [Orphanet]
|
|
|
|
102 / 7739
|
|
4
|
(HPO:0000912)
|
Sprengel anomaly |
Very frequent [Orphanet]
|
|
|
|
51 / 7739
|
|
5
|
(HPO:0002823)
|
Abnormality of the femur |
Very frequent [Orphanet]
|
|
|
|
61 / 7739
|
|
6
|
(HPO:0002101)
|
Abnormal lung lobation |
Very frequent [Orphanet]
|
|
|
|
33 / 7739
|
|
7
|
(HPO:0002991)
|
Abnormality of the fibula |
Very frequent [Orphanet]
|
|
|
|
49 / 7739
|
|
8
|
(HPO:0002997)
|
Abnormality of the ulna |
Very frequent [Orphanet]
|
|
|
|
75 / 7739
|
|
9
|
(HPO:0000775)
|
Abnormality of the diaphragm |
Very frequent [Orphanet]
|
|
|
|
62 / 7739
|
|
10
|
(HPO:0000776)
|
Congenital diaphragmatic hernia |
|
|
|
|
36 / 7739
|
|
11
|
(HPO:0002814)
|
Abnormality of the lower limb |
Very frequent [Orphanet]
|
|
|
|
23 / 7739
|
|
12
|
(HPO:0003063)
|
Abnormality of the humerus |
Very frequent [Orphanet]
|
|
|
|
36 / 7739
|
|
13
|
(HPO:0002818)
|
Abnormality of the radius |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
14
|
(HPO:0000029)
|
Testicular atrophy |
|
|
|
|
13 / 7739
|
|
15
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
|
16
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
17
|
(HPO:0000463)
|
Anteverted nares |
|
|
|
|
305 / 7739
|
|
18
|
(HPO:0001770)
|
Toe syndactyly |
|
|
|
|
149 / 7739
|
|
19
|
(HPO:0002089)
|
Pulmonary hypoplasia |
|
|
|
|
80 / 7739
|
|
20
|
(HPO:0002566)
|
Intestinal malrotation |
|
|
|
|
89 / 7739
|
|
21
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
|
|
|
|
288 / 7739
|
|
22
|
(HPO:0006101)
|
Finger syndactyly |
Very frequent [Orphanet]
|
|
|
|
198 / 7739
|
|
23
|
(OMIM)
|
Hypertelorism, mild |
|
|
|
|
11 / 7739
|
|
24
|
(OMIM)
|
Pulmonary hypoplasia associated with diaphragmatic hernia |
|
|
|
|
1 / 7739
|
|
25
|
(MedDRA:10053652)
|
Limb deformity |
|
|
|
|
2 / 7739
|
|
26
|
(OMIM)
|
Limb hypoplasia |
|
|
|
|
2 / 7739
|
|
27
|
(OMIM)
|
Limb amelia |
|
|
|
|
2 / 7739
|
|
28
|
(HPO:0001159)
|
Syndactyly |
|
|
|
|
140 / 7739
|
|
29
|
(HPO:0009466)
|
Radial deviation of finger |
Very frequent [Orphanet]
|
|
|
|
101 / 7739
|
|
30
|
(HPO:0040065)
|
Abnormal morphology of bones of the upper limbs |
Very frequent [Orphanet]
|
|
|
|
25 / 7739
|
|
31
|
(HPO:0002817)
|
Abnormality of the upper limb |
Very frequent [Orphanet]
|
|
|
|
25 / 7739
|
|
32
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|