|
1
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
2
|
(HPO:0000028)
|
Cryptorchidism |
rare [HPO:skoehler]
|
|
|
|
347 / 7739
|
|
3
|
(HPO:0000121)
|
Nephrocalcinosis |
rare [HPO:skoehler]
|
|
|
|
57 / 7739
|
|
4
|
(HPO:0000510)
|
Rod-cone dystrophy |
rare [HPO:skoehler]
|
|
|
|
266 / 7739
|
|
5
|
(HPO:0000750)
|
Delayed speech and language development |
rare [HPO:skoehler]
|
|
|
|
197 / 7739
|
|
6
|
(HPO:0000774)
|
Narrow chest |
|
|
|
|
167 / 7739
|
|
7
|
(HPO:0000888)
|
Horizontal ribs |
|
|
|
|
12 / 7739
|
|
8
|
(HPO:0001156)
|
Brachydactyly syndrome |
|
|
|
|
180 / 7739
|
|
9
|
(HPO:0001513)
|
Obesity |
rare [HPO:skoehler]
|
|
|
|
172 / 7739
|
|
10
|
(HPO:0001561)
|
Polyhydramnios |
rare [HPO:skoehler]
|
|
|
|
191 / 7739
|
|
11
|
(HPO:0001591)
|
Bell-shaped thorax |
|
|
|
|
35 / 7739
|
|
12
|
(HPO:0002093)
|
Respiratory insufficiency |
|
|
|
|
410 / 7739
|
|
13
|
(HPO:0002205)
|
Recurrent respiratory infections |
|
|
|
|
254 / 7739
|
|
14
|
(HPO:0003026)
|
Short long bone |
|
|
|
|
51 / 7739
|
|
15
|
(HPO:0006644)
|
Thoracic dysplasia |
|
|
|
|
12 / 7739
|
|
16
|
(HPO:0100259)
|
Postaxial polydactyly |
rare [HPO:skoehler]
|
|
|
|
85 / 7739
|