|
1
|
(HPO:0000062)
|
Ambiguous genitalia |
|
|
|
|
74 / 7739
|
|
2
|
(HPO:0000256)
|
Macrocephaly |
|
|
|
|
298 / 7739
|
|
3
|
(HPO:0000773)
|
Short ribs |
|
|
|
|
70 / 7739
|
|
4
|
(HPO:0000774)
|
Narrow chest |
|
|
|
|
167 / 7739
|
|
5
|
(HPO:0001159)
|
Syndactyly |
|
|
|
|
140 / 7739
|
|
6
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
7
|
(HPO:0001561)
|
Polyhydramnios |
|
|
|
|
191 / 7739
|
|
8
|
(HPO:0001629)
|
Ventricular septal defect |
|
|
|
|
316 / 7739
|
|
9
|
(HPO:0002089)
|
Pulmonary hypoplasia |
|
|
|
|
80 / 7739
|
|
10
|
(HPO:0002980)
|
Femoral bowing |
|
|
|
|
36 / 7739
|
|
11
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
12
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
|
|
381 / 7739
|
|
13
|
(HPO:0010454)
|
Acetabular spurs |
|
|
|
|
4 / 7739
|
|
14
|
(HPO:0100258)
|
Preaxial polydactyly |
|
|
|
|
39 / 7739
|
|
15
|
(HPO:0100259)
|
Postaxial polydactyly |
|
|
|
|
85 / 7739
|
|
16
|
(HPO:0100732)
|
Pancreatic fibrosis |
|
|
|
|
12 / 7739
|
|
17
|
(OMIM)
|
Handlebar clavicles |
|
|
|
|
3 / 7739
|
|
18
|
(OMIM)
|
Enlarged liver with ductal plate malformation |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Prominent bile duct plates |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Dilation of renal tubules, mild |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Focal cystic changes |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Short long bones on prenatal ultrasound |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Conical epiphyses |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
Hypoplastic trabecular bone |
|
|
|
|
1 / 7739
|
|
25
|
(MedDRA:10072883)
|
Brachydactyly |
|
|
|
|
153 / 7739
|
|
26
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
27
|
(HPO:0001156)
|
Brachydactyly syndrome |
|
|
|
|
180 / 7739
|
|
28
|
(HPO:0003026)
|
Short long bone |
|
|
|
|
51 / 7739
|
|
29
|
(HPO:0006644)
|
Thoracic dysplasia |
|
|
|
|
12 / 7739
|