|
1
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
2
|
(HPO:0000175)
|
Cleft palate |
rare [HPO:skoehler]
|
|
|
|
349 / 7739
|
|
3
|
(HPO:0000218)
|
High palate |
rare [HPO:skoehler]
|
|
|
|
356 / 7739
|
|
4
|
(HPO:0000347)
|
Micrognathia |
rare [HPO:skoehler]
|
|
|
|
426 / 7739
|
|
5
|
(HPO:0000774)
|
Narrow chest |
rare [HPO:skoehler]
|
|
|
|
167 / 7739
|
|
6
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
7
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
8
|
(HPO:0001623)
|
Breech presentation |
rare [HPO:skoehler]
|
|
|
|
16 / 7739
|
|
9
|
(HPO:0001989)
|
Fetal akinesia sequence |
rare [HPO:skoehler]
|
|
|
|
14 / 7739
|
|
10
|
(HPO:0002093)
|
Respiratory insufficiency |
rare [HPO:skoehler]
|
|
|
|
410 / 7739
|
|
11
|
(HPO:0002650)
|
Scoliosis |
rare [HPO:skoehler]
|
|
|
|
705 / 7739
|
|
12
|
(HPO:0002804)
|
Arthrogryposis multiplex congenita |
rare [HPO:skoehler]
|
|
|
|
93 / 7739
|
|
13
|
(HPO:0003828)
|
Variable expressivity |
|
|
|
|
130 / 7739
|