|
1
|
(HPO:0000293)
|
Full cheeks |
|
|
|
|
85 / 7739
|
|
2
|
(HPO:0000321)
|
Square face |
|
|
|
|
4 / 7739
|
|
3
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
4
|
(HPO:0000824)
|
Growth hormone deficiency |
|
|
|
|
56 / 7739
|
|
5
|
(HPO:0001765)
|
Hammertoe |
|
|
|
|
63 / 7739
|
|
6
|
(HPO:0002804)
|
Arthrogryposis multiplex congenita |
|
|
|
|
93 / 7739
|
|
7
|
(HPO:0005684)
|
Distal arthrogryposis |
|
|
|
|
31 / 7739
|
|
8
|
(HPO:0006887)
|
Intellectual disability, progressive |
|
|
|
|
68 / 7739
|
|
9
|
(HPO:0010864)
|
Intellectual disability, severe |
|
|
|
|
120 / 7739
|
|
10
|
(HPO:0100490)
|
Camptodactyly of finger |
|
|
|
|
212 / 7739
|
|
11
|
(HPO:0001761)
|
Pes cavus |
|
|
|
|
225 / 7739
|
|
12
|
(HPO:0001763)
|
Pes planus |
|
|
|
|
176 / 7739
|
|
13
|
(HPO:0001822)
|
Hallux valgus |
|
|
|
|
70 / 7739
|
|
14
|
(HPO:0001838)
|
Rocker bottom foot |
|
|
|
|
85 / 7739
|
|
15
|
(HPO:0000830)
|
Anterior hypopituitarism |
|
|
|
|
9 / 7739
|
|
16
|
(OMIM)
|
'Boxy' shape |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Small tipped nose |
|
|
|
|
1 / 7739
|
|
18
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|