|
1
|
(HPO:0000252)
|
Microcephaly |
Very frequent [Orphanet]
|
|
|
|
832 / 7739
|
|
2
|
(HPO:0000444)
|
Convex nasal ridge |
Very frequent [Orphanet]
|
|
|
|
87 / 7739
|
|
3
|
(HPO:0001903)
|
Anemia |
Frequent [Orphanet]
|
|
|
|
289 / 7739
|
|
4
|
(HPO:0005352)
|
Severe T-cell immunodeficiency |
Very frequent [Orphanet]
|
|
|
|
20 / 7739
|
|
5
|
(HPO:0002960)
|
Autoimmunity |
Occasional [Orphanet]
|
|
|
|
78 / 7739
|
|
6
|
(HPO:0001873)
|
Thrombocytopenia |
Frequent [Orphanet]
|
|
|
|
224 / 7739
|
|
7
|
(HPO:0001888)
|
Lymphopenia |
Very frequent [Orphanet]
|
|
|
|
43 / 7739
|
|
8
|
(HPO:0000340)
|
Sloping forehead |
Very frequent [Orphanet]
|
|
|
|
86 / 7739
|
|
9
|
(HPO:0010701)
|
Abnormal immunoglobulin level |
Very frequent [Orphanet]
|
|
|
|
49 / 7739
|
|
10
|
(HPO:0004325)
|
Decreased body weight |
Very frequent [Orphanet]
|
|
|
|
492 / 7739
|
|
11
|
(HPO:0010978)
|
Abnormality of immune system physiology |
Occasional [Orphanet]
|
|
|
|
148 / 7739
|
|
12
|
(HPO:0000277)
|
Abnormality of the mandible |
Very frequent [Orphanet]
|
|
|
|
394 / 7739
|
|
13
|
(HPO:0005105)
|
Abnormal nasal morphology |
Very frequent [Orphanet]
|
|
|
|
114 / 7739
|