1
|
(HPO:0100806)
|
Sepsis |
Very frequent [Orphanet]
|
|
956962; 13840590; 28331055
|
IBIS
|
48 / 7739
|
2
|
(HPO:0002205)
|
Recurrent respiratory infections |
Very frequent [Orphanet]
|
|
28331055
|
IBIS
|
254 / 7739
|
3
|
(HPO:0200042)
|
Skin ulcer |
Occasional [Orphanet]
|
|
956962; 535190
|
IBIS
|
138 / 7739
|
4
|
(HPO:0004430)
|
Severe combined immunodeficiency |
Very frequent [Orphanet]
|
|
19043417; 28331055
|
IBIS
|
16 / 7739
|
5
|
(HPO:0005354)
|
Absent cellular immunity |
|
|
28331055
|
IBIS
|
2 / 7739
|
6
|
(HPO:0001882)
|
Leukopenia |
Very frequent [Orphanet]
|
|
956962; 13840590; 535190
|
IBIS
|
51 / 7739
|
7
|
(HPO:0003287)
|
Abnormality of mitochondrial metabolism |
Very frequent [Orphanet]
|
|
19043417
|
IBIS
|
12 / 7739
|
8
|
(HPO:0002014)
|
Diarrhea |
Very frequent [Orphanet]
|
|
956962; 28331055; 535190
|
IBIS
|
225 / 7739
|
9
|
(HPO:0001888)
|
Lymphopenia |
|
|
19043417; 956962; 28331055; 535190
|
IBIS
|
43 / 7739
|
10
|
(HPO:0005541)
|
Congenital agranulocytosis |
|
|
28331055
|
IBIS
|
2 / 7739
|
11
|
(HPO:0010515)
|
Aplasia/Hypoplasia of the thymus |
Very frequent [Orphanet]
|
|
19043417
|
IBIS
|
17 / 7739
|
12
|
(HPO:0001522)
|
Death in infancy |
Frequent [Orphanet]
|
|
19043417; 956962
|
IBIS
|
275 / 7739
|
13
|
(HPO:0010701)
|
Abnormal immunoglobulin level |
Very frequent [Orphanet]
|
|
28331055
|
IBIS
|
49 / 7739
|
14
|
(HPO:0001913)
|
Granulocytopenia |
|
|
19043417
|
IBIS
|
5 / 7739
|
15
|
(HPO:0000778)
|
Hypoplasia of the thymus |
|
|
19043417; 956962; 535190
|
IBIS
|
13 / 7739
|
16
|
(HPO:0002721)
|
Immunodeficiency |
|
|
19043417
|
IBIS
|
97 / 7739
|
17
|
(HPO:0002719)
|
Recurrent infections |
|
|
19043416
|
IBIS
|
107 / 7739
|
18
|
(HPO:0008619)
|
Bilateral sensorineural hearing impairment |
|
|
19043416
|
IBIS
|
23 / 7739
|
19
|
(HPO:0003811)
|
Neonatal death |
|
|
956962; 13840590; 535190
|
IBIS
|
44 / 7739
|
20
|
(HPO:0000952)
|
Jaundice |
|
|
956962; 535190
|
IBIS
|
105 / 7739
|
21
|
(HPO:0001622)
|
Premature birth |
|
|
956962; 13840590; 28331055
|
IBIS
|
100 / 7739
|
22
|
(HPO:0000961)
|
Cyanosis |
|
|
956962
|
IBIS
|
60 / 7739
|
23
|
(HPO:0002098)
|
Respiratory distress |
|
|
956962
|
IBIS
|
75 / 7739
|
24
|
(HPO:0002197)
|
Generalized seizures |
|
|
956962
|
IBIS
|
30 / 7739
|
25
|
(HPO:0001662)
|
Bradycardia |
|
|
956962
|
IBIS
|
41 / 7739
|
26
|
(HPO:0005359)
|
Aplasia of the thymus |
|
|
956962; 13840590; 535190
|
IBIS
|
6 / 7739
|
27
|
(HPO:0008151)
|
Prolonged prothrombin time |
|
|
13840590
|
IBIS
|
13 / 7739
|
28
|
(HPO:0001743)
|
Abnormality of the spleen |
|
|
13840590
|
IBIS
|
37 / 7739
|
29
|
(HPO:0005561)
|
Abnormality of bone marrow cell morphology |
|
|
13840590; 28331055
|
IBIS
|
11 / 7739
|
30
|
(HPO:0012234)
|
Agranulocytosis |
|
|
28331055
|
IBIS
|
4 / 7739
|
31
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
28331055
|
IBIS
|
524 / 7739
|
32
|
(HPO:0001518)
|
Small for gestational age |
|
|
28331055
|
IBIS
|
107 / 7739
|
33
|
(MedDRA:10030306)
|
Omphalitis |
|
|
28331055; 535190
|
IBIS
|
2 / 7739
|
34
|
(HPO:0001019)
|
Erythroderma |
|
|
28331055
|
IBIS
|
24 / 7739
|
35
|
(HPO:0002716)
|
Lymphadenopathy |
|
|
28331055
|
IBIS
|
129 / 7739
|
36
|
(HPO:0100827)
|
Lymphocytosis |
|
|
28331055
|
IBIS
|
5 / 7739
|
37
|
(HPO:0045071)
|
Decrease in T cell number |
|
|
28331055
|
IBIS
|
2 / 7739
|
38
|
(HPO:0001873)
|
Thrombocytopenia |
|
|
28331055
|
IBIS
|
224 / 7739
|
39
|
(HPO:0001541)
|
Ascites |
|
|
28331055
|
IBIS
|
94 / 7739
|
40
|
(HPO:0002240)
|
Hepatomegaly |
|
|
28331055
|
IBIS
|
467 / 7739
|
41
|
(HPO:0001744)
|
Splenomegaly |
|
|
28331055
|
IBIS
|
337 / 7739
|
42
|
(HPO:0002611)
|
Cholestatic liver disease |
|
|
28331055
|
IBIS
|
19 / 7739
|
43
|
(HPO:0002715)
|
Abnormality of the immune system |
|
|
535190
|
IBIS
|
46 / 7739
|
44
|
(HPO:0005528)
|
Bone marrow hypocellularity |
|
|
535190
|
IBIS
|
31 / 7739
|
45
|
(MedDRA:10061308)
|
Neonatal infection |
|
|
535190
|
IBIS
|
2 / 7739
|
46
|
(HPO:0004298)
|
Abnormality of the abdominal wall |
|
|
535190
|
IBIS
|
20 / 7739
|
47
|
(HPO:0003270)
|
Abdominal distention |
|
|
535190
|
IBIS
|
46 / 7739
|
48
|
(HPO:0002013)
|
Vomiting |
|
|
535190
|
IBIS
|
191 / 7739
|