|
1
|
(HPO:0001250)
|
Seizures |
rare [HPO:skoehler]
|
|
26994629
|
IBIS
|
1245 / 7739
|
|
2
|
(HPO:0001249)
|
Intellectual disability |
|
|
26994629
|
IBIS
|
1089 / 7739
|
|
3
|
(HPO:0001263)
|
Global developmental delay |
rare [HPO:skoehler]
|
|
26994629
|
IBIS
|
853 / 7739
|
|
4
|
(HPO:0001270)
|
Motor delay |
|
|
20177699
|
IBIS
|
322 / 7739
|
|
5
|
(HPO:0001875)
|
Neutropenia |
|
|
24482108
|
IBIS
|
83 / 7739
|
|
6
|
(HPO:0001909)
|
Leukemia |
|
|
26994629
|
IBIS
|
46 / 7739
|
|
7
|
(HPO:0002718)
|
Recurrent bacterial infections |
|
|
24482108
|
IBIS
|
75 / 7739
|
|
8
|
(HPO:0002863)
|
Myelodysplasia |
|
|
26994629
|
IBIS
|
30 / 7739
|
|
9
|
(HPO:0000230)
|
Gingivitis |
|
|
26994629
|
IBIS
|
31 / 7739
|
|
10
|
(HPO:0010280)
|
Stomatitis |
|
|
26994629
|
IBIS
|
8 / 7739
|
|
11
|
(HPO:0002722)
|
Recurrent abscess formation |
|
|
26994629
|
IBIS
|
4 / 7739
|
|
12
|
(HPO:0000750)
|
Delayed speech and language development |
|
|
26994629
|
IBIS
|
197 / 7739
|
|
13
|
(HPO:0100806)
|
Sepsis |
|
|
24482108
|
IBIS
|
48 / 7739
|
|
14
|
(HPO:0002583)
|
Colitis |
|
|
24482108
|
IBIS
|
9 / 7739
|
|
15
|
(HPO:0100658)
|
Cellulitis |
|
|
24482108
|
IBIS
|
7 / 7739
|
|
16
|
(HPO:0005549)
|
Congenital neutropenia |
|
|
24482108
|
IBIS
|
6 / 7739
|
|
17
|
(HPO:0011991)
|
Abnormal neutrophil cell number |
|
|
24482108
|
IBIS
|
3 / 7739
|
|
18
|
(HPO:0012311)
|
Monocytosis |
|
|
24482108
|
IBIS
|
10 / 7739
|
|
19
|
(HPO:0012234)
|
Agranulocytosis |
|
|
24482108
|
IBIS
|
4 / 7739
|
|
20
|
(HPO:0002090)
|
Pneumonia |
|
|
26994629
|
IBIS
|
59 / 7739
|
|
21
|
(HPO:0000388)
|
Otitis media |
|
|
24341138
|
IBIS
|
28 / 7739
|
|
22
|
(HPO:0002205)
|
Recurrent respiratory infections |
|
|
24341138
|
IBIS
|
254 / 7739
|
|
23
|
(HPO:0000823)
|
Delayed puberty |
|
|
18513342
|
IBIS
|
65 / 7739
|
|
24
|
(HPO:0004322)
|
Short stature |
|
|
18513342
|
IBIS
|
1232 / 7739
|
|
25
|
(HPO:0002840)
|
Lymphadenitis |
|
|
17187068
|
IBIS
|
7 / 7739
|
|
26
|
(MedDRA:10030306)
|
Omphalitis |
|
|
17187068
|
IBIS
|
2 / 7739
|