|
1
|
(HPO:0000256)
|
Macrocephaly |
Frequent [Orphanet]
|
|
|
|
298 / 7739
|
|
2
|
(HPO:0000286)
|
Epicanthus |
Occasional [Orphanet]
|
|
|
|
371 / 7739
|
|
3
|
(HPO:0000316)
|
Hypertelorism |
Occasional [Orphanet]
|
|
|
|
644 / 7739
|
|
4
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
5
|
(HPO:0001334)
|
Communicating hydrocephalus |
Frequent [Orphanet]
|
|
|
|
32 / 7739
|
|
6
|
(HPO:0001537)
|
Umbilical hernia |
Occasional [Orphanet]
|
|
|
|
206 / 7739
|
|
7
|
(HPO:0001874)
|
Abnormality of neutrophils |
Frequent [Orphanet]
|
|
|
|
47 / 7739
|
|
8
|
(HPO:0001888)
|
Lymphopenia |
Frequent [Orphanet]
|
|
|
|
43 / 7739
|
|
9
|
(HPO:0001903)
|
Anemia |
Frequent [Orphanet]
|
|
|
|
289 / 7739
|
|
10
|
(HPO:0002024)
|
Malabsorption |
Frequent [Orphanet]
|
|
|
|
142 / 7739
|
|
11
|
(HPO:0002205)
|
Recurrent respiratory infections |
Very frequent [Orphanet]
|
|
|
|
254 / 7739
|
|
12
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
13
|
(HPO:0005280)
|
Depressed nasal bridge |
Frequent [Orphanet]
|
|
|
|
381 / 7739
|
|
14
|
(HPO:0005352)
|
Severe T-cell immunodeficiency |
Frequent [Orphanet]
|
|
|
|
20 / 7739
|
|
15
|
(HPO:0000158)
|
Macroglossia |
Occasional [Orphanet]
|
|
|
|
119 / 7739
|
|
16
|
(HPO:0012368)
|
Flat face |
Occasional [Orphanet]
|
|
|
|
106 / 7739
|
|
17
|
(HPO:0000357)
|
Abnormal location of ears |
Occasional [Orphanet]
|
|
|
|
328 / 7739
|
|
18
|
(HPO:0010978)
|
Abnormality of immune system physiology |
Very frequent [Orphanet]
|
|
|
|
148 / 7739
|
|
19
|
(HPO:0003220)
|
Abnormality of chromosome stability |
Very frequent [Orphanet]
|
|
|
|
98 / 7739
|
|
20
|
(HPO:0012758)
|
Neurodevelopmental delay |
Frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
21
|
(HPO:0000277)
|
Abnormality of the mandible |
Very frequent [Orphanet]
|
|
|
|
394 / 7739
|
|
22
|
(HPO:0010701)
|
Abnormal immunoglobulin level |
Very frequent [Orphanet]
|
|
|
|
49 / 7739
|
|
23
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
24
|
(HPO:0000246)
|
Sinusitis |
|
|
|
|
73 / 7739
|
|
25
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
|
26
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
27
|
(HPO:0000463)
|
Anteverted nares |
|
|
|
|
305 / 7739
|
|
28
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
29
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
30
|
(HPO:0002014)
|
Diarrhea |
|
|
|
|
225 / 7739
|
|
31
|
(HPO:0002090)
|
Pneumonia |
|
|
|
|
59 / 7739
|
|
32
|
(HPO:0002110)
|
Bronchiectasis |
|
|
|
|
73 / 7739
|
|
33
|
(HPO:0002721)
|
Immunodeficiency |
|
|
|
|
97 / 7739
|
|
34
|
(HPO:0003196)
|
Short nose |
|
|
|
|
264 / 7739
|
|
35
|
(HPO:0004313)
|
Decreased antibody level in blood |
|
|
|
|
47 / 7739
|
|
36
|
(HPO:0004469)
|
Chronic bronchitis |
|
|
|
|
17 / 7739
|
|
37
|
(HPO:0005403)
|
T lymphocytopenia |
|
|
|
|
10 / 7739
|
|
38
|
(HPO:0010808)
|
Protruding tongue |
|
|
|
|
28 / 7739
|