|
1
|
(HPO:0000204)
|
Cleft upper lip |
|
|
|
|
193 / 7739
|
|
2
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
3
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
4
|
(HPO:0000358)
|
Posteriorly rotated ears |
|
|
|
|
163 / 7739
|
|
5
|
(HPO:0000430)
|
Underdeveloped nasal alae |
|
|
|
|
90 / 7739
|
|
6
|
(HPO:0000592)
|
Blue sclerae |
|
|
|
|
85 / 7739
|
|
7
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
8
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
9
|
(HPO:0001511)
|
Intrauterine growth retardation |
|
|
|
|
358 / 7739
|
|
10
|
(HPO:0001650)
|
Aortic valve stenosis |
|
|
|
|
49 / 7739
|
|
11
|
(HPO:0002286)
|
Fair hair |
|
|
|
|
20 / 7739
|
|
12
|
(HPO:0002645)
|
Wormian bones |
|
|
|
|
65 / 7739
|
|
13
|
(HPO:0003273)
|
Hip contracture |
|
|
|
|
30 / 7739
|
|
14
|
(HPO:0003616)
|
Premature separation of centromeric heterochromatin |
|
|
|
|
3 / 7739
|
|
15
|
(HPO:0003974)
|
Absent radius |
|
|
|
|
26 / 7739
|
|
16
|
(HPO:0003982)
|
Absent ulna |
|
|
|
|
7 / 7739
|
|
17
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
18
|
(HPO:0006380)
|
Knee flexion contracture |
|
|
|
|
56 / 7739
|
|
19
|
(HPO:0007452)
|
Midface capillary hemangioma |
|
|
|
|
4 / 7739
|
|
20
|
(HPO:0008070)
|
Sparse hair |
|
|
|
|
94 / 7739
|
|
21
|
(HPO:0009466)
|
Radial deviation of finger |
|
|
|
|
101 / 7739
|
|
22
|
(HPO:0009778)
|
Short thumb |
|
|
|
|
50 / 7739
|
|
23
|
(OMIM)
|
Absent lobules |
|
|
|
|
1 / 7739
|
|
24
|
(MedDRA:10058668)
|
Clinodactyly |
|
|
|
|
91 / 7739
|
|
25
|
(OMIM)
|
Blond, silvery hair |
|
|
|
|
2 / 7739
|
|
26
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
27
|
(HPO:0009829)
|
Phocomelia |
|
|
|
|
20 / 7739
|
|
28
|
(HPO:0030084)
|
Clinodactyly |
|
|
|
|
90 / 7739
|