|
1
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
|
2
|
(HPO:0000414)
|
Bulbous nose |
|
|
|
|
63 / 7739
|
|
3
|
(HPO:0000582)
|
Upslanted palpebral fissure |
|
|
|
|
185 / 7739
|
|
4
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
5
|
(HPO:0002263)
|
Exaggerated cupid's bow |
|
|
|
|
15 / 7739
|
|
6
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
7
|
(HPO:0009276)
|
Contracture of the proximal interphalangeal joint of the 4th finger |
|
|
|
|
1 / 7739
|
|
8
|
(HPO:0009185)
|
Contracture of the proximal interphalangeal joint of the 5th finger |
|
|
|
|
3 / 7739
|
|
9
|
(HPO:0006887)
|
Intellectual disability, progressive |
|
|
|
|
68 / 7739
|
|
10
|
(HPO:0010864)
|
Intellectual disability, severe |
|
|
|
|
120 / 7739
|
|
11
|
(OMIM)
|
Almond-shaped eyes |
|
|
|
|
12 / 7739
|
|
12
|
(OMIM)
|
Mongoloid eye slant |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Camptodactyly of fingers 4 and 5 |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Firm nonbony prominences of wrists |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Severe motor retardation |
|
|
|
|
1 / 7739
|
|
16
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|