1
|
(HPO:0002024)
|
Malabsorption |
Occasional [Orphanet]
|
|
|
|
142 / 7739
|
2
|
(HPO:0004432)
|
Agammaglobulinemia |
|
|
|
|
17 / 7739
|
3
|
(HPO:0002205)
|
Recurrent respiratory infections |
Very frequent [Orphanet]
|
|
|
|
254 / 7739
|
4
|
(HPO:0001903)
|
Anemia |
Occasional [Orphanet]
|
|
|
|
289 / 7739
|
5
|
(HPO:0012090)
|
Abnormality of pancreas morphology |
Occasional [Orphanet]
|
|
|
|
31 / 7739
|
6
|
(HPO:0001022)
|
Albinism |
Occasional [Orphanet]
|
|
|
|
43 / 7739
|
7
|
(HPO:0005352)
|
Severe T-cell immunodeficiency |
Very frequent [Orphanet]
|
|
|
|
20 / 7739
|
8
|
(HPO:0000767)
|
Pectus excavatum |
Occasional [Orphanet]
|
|
|
|
244 / 7739
|
9
|
(HPO:0002991)
|
Abnormality of the fibula |
Occasional [Orphanet]
|
|
|
|
49 / 7739
|
10
|
(HPO:0002251)
|
Aganglionic megacolon |
Occasional [Orphanet]
|
|
|
|
78 / 7739
|
11
|
(HPO:0002213)
|
Fine hair |
Frequent [Orphanet]
|
|
|
|
77 / 7739
|
12
|
(HPO:0004322)
|
Short stature |
Frequent [Orphanet]
|
|
|
|
1232 / 7739
|
13
|
(HPO:0000944)
|
Abnormality of the metaphyses |
Very frequent [Orphanet]
|
|
|
|
141 / 7739
|
14
|
(HPO:0001888)
|
Lymphopenia |
Very frequent [Orphanet]
|
|
|
|
43 / 7739
|
15
|
(HPO:0000765)
|
Abnormality of the thorax |
|
|
|
|
64 / 7739
|
16
|
(HPO:0000778)
|
Hypoplasia of the thymus |
|
|
|
|
13 / 7739
|
17
|
(HPO:0004299)
|
Hernia of the abdominal wall |
Occasional [Orphanet]
|
|
|
|
176 / 7739
|
18
|
(HPO:0004349)
|
Reduced bone mineral density |
Frequent [Orphanet]
|
|
|
|
165 / 7739
|
19
|
(HPO:0005871)
|
Metaphyseal chondrodysplasia |
|
|
|
|
10 / 7739
|
20
|
(HPO:0003085)
|
Long fibula |
|
|
|
|
5 / 7739
|
21
|
(HPO:0000777)
|
Abnormality of the thymus |
|
|
|
|
9 / 7739
|
22
|
(OMIM)
|
Short-limb dysplasia |
|
|
|
|
1 / 7739
|
23
|
(OMIM)
|
Harrison grooves |
|
|
|
|
1 / 7739
|
24
|
(HPO:0010701)
|
Abnormal immunoglobulin level |
Frequent [Orphanet]
|
|
|
|
49 / 7739
|
25
|
(HPO:0010978)
|
Abnormality of immune system physiology |
Very frequent [Orphanet]
|
|
|
|
148 / 7739
|
26
|
(HPO:0012758)
|
Neurodevelopmental delay |
Occasional [Orphanet]
|
|
|
|
949 / 7739
|
27
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
28
|
(HPO:0003819)
|
Death in childhood |
|
|
|
|
42 / 7739
|
29
|
(HPO:0004430)
|
Severe combined immunodeficiency |
|
|
|
|
16 / 7739
|