|
1
|
(HPO:0000023)
|
Inguinal hernia |
|
|
|
|
181 / 7739
|
|
2
|
(HPO:0000047)
|
Hypospadias |
|
|
|
|
250 / 7739
|
|
3
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
4
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
|
5
|
(HPO:0000276)
|
Long face |
|
|
|
|
109 / 7739
|
|
6
|
(HPO:0000322)
|
Short philtrum |
|
|
|
|
130 / 7739
|
|
7
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
8
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
|
|
524 / 7739
|
|
9
|
(HPO:0000426)
|
Prominent nasal bridge |
|
|
|
|
121 / 7739
|
|
10
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
|
11
|
(HPO:0000490)
|
Deeply set eye |
|
|
|
|
131 / 7739
|
|
12
|
(HPO:0000535)
|
Sparse and thin eyebrow |
|
|
|
|
76 / 7739
|
|
13
|
(HPO:0000613)
|
Photophobia |
|
|
|
|
158 / 7739
|
|
14
|
(HPO:0000621)
|
Entropion |
|
|
|
|
12 / 7739
|
|
15
|
(HPO:0000767)
|
Pectus excavatum |
|
|
|
|
244 / 7739
|
|
16
|
(HPO:0000968)
|
Ectodermal dysplasia |
|
|
|
|
46 / 7739
|
|
17
|
(HPO:0001128)
|
Trichiasis |
|
|
|
|
4 / 7739
|
|
18
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
|
|
|
|
328 / 7739
|
|
19
|
(HPO:0002808)
|
Kyphosis |
|
|
|
|
289 / 7739
|
|
20
|
(HPO:0009466)
|
Radial deviation of finger |
|
|
|
|
101 / 7739
|
|
21
|
(HPO:0011800)
|
Midface retrusion |
|
|
|
|
221 / 7739
|
|
22
|
(MedDRA:10010984)
|
Corneal abrasion |
|
|
|
|
4 / 7739
|
|
23
|
(OMIM)
|
Poor corneal tear film |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
Abnormal/absent meibomian glands |
|
|
|
|
1 / 7739
|
|
25
|
(MedDRA:10058668)
|
Clinodactyly |
|
|
|
|
91 / 7739
|
|
26
|
(OMIM)
|
Progressive thinning of scalp hair |
|
|
|
|
1 / 7739
|
|
27
|
(OMIM)
|
Coarse, dry scalp hair |
|
|
|
|
2 / 7739
|
|
28
|
(OMIM)
|
Balanced translocation carrier 46,XY,+(11:18)(p13:q21)mat |
|
|
|
|
1 / 7739
|
|
29
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|