|
1
|
(HPO:0000086)
|
Ectopic kidney |
|
|
|
|
29 / 7739
|
|
2
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
|
3
|
(HPO:0000431)
|
Wide nasal bridge |
|
|
|
|
290 / 7739
|
|
4
|
(HPO:0000470)
|
Short neck |
|
|
|
|
345 / 7739
|
|
5
|
(HPO:0000938)
|
Osteopenia |
|
|
|
|
138 / 7739
|
|
6
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
7
|
(HPO:0001369)
|
Arthritis |
|
|
|
|
44 / 7739
|
|
8
|
(HPO:0001537)
|
Umbilical hernia |
|
|
|
|
206 / 7739
|
|
9
|
(HPO:0002090)
|
Pneumonia |
|
|
|
|
59 / 7739
|
|
10
|
(HPO:0002119)
|
Ventriculomegaly |
|
|
|
|
253 / 7739
|
|
11
|
(HPO:0002123)
|
Generalized myoclonic seizures |
|
|
|
|
62 / 7739
|
|
12
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
|
|
381 / 7739
|
|
13
|
(HPO:0007678)
|
Lacrimal duct stenosis |
|
|
|
|
8 / 7739
|
|
14
|
(HPO:0009891)
|
Underdeveloped supraorbital ridges |
|
|
|
|
36 / 7739
|
|
15
|
(HPO:0010049)
|
Short metacarpal |
|
|
|
|
99 / 7739
|
|
16
|
(HPO:0010282)
|
Thin lower lip vermilion |
|
|
|
|
1 / 7739
|
|
17
|
(HPO:0010579)
|
Cone-shaped epiphysis |
|
|
|
|
54 / 7739
|
|
18
|
(HPO:0010743)
|
Short metatarsal |
|
|
|
|
56 / 7739
|
|
19
|
(OMIM)
|
Square chin |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Thin optic nerves |
|
|
|
|
2 / 7739
|
|
21
|
(OMIM)
|
Puffy and droopy eyelids |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Aberrant subclavian artery |
|
|
|
|
2 / 7739
|
|
23
|
(OMIM)
|
Esophageal dyskinesia |
|
|
|
|
1 / 7739
|
|
24
|
(HPO:0004736)
|
Crossed fused renal ectopia |
|
|
|
|
5 / 7739
|
|
25
|
(OMIM)
|
Repeated invasive infections |
|
|
|
|
1 / 7739
|
|
26
|
(OMIM)
|
Normal or elevated lymphocytes |
|
|
|
|
1 / 7739
|
|
27
|
(OMIM)
|
Low T-cell function |
|
|
|
|
1 / 7739
|
|
28
|
(OMIM)
|
Low IgG with antibody deficiency |
|
|
|
|
1 / 7739
|
|
29
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
30
|
(HPO:0001999)
|
Abnormal facial shape |
|
|
|
|
169 / 7739
|