|
1
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
2
|
(HPO:0000846)
|
Adrenal insufficiency |
|
|
|
|
24 / 7739
|
|
3
|
(HPO:0001511)
|
Intrauterine growth retardation |
|
|
|
|
358 / 7739
|
|
4
|
(HPO:0001744)
|
Splenomegaly |
|
|
|
|
337 / 7739
|
|
5
|
(HPO:0002093)
|
Respiratory insufficiency |
|
|
|
|
410 / 7739
|
|
6
|
(HPO:0002205)
|
Recurrent respiratory infections |
|
|
|
|
254 / 7739
|
|
7
|
(HPO:0002240)
|
Hepatomegaly |
|
|
|
|
467 / 7739
|
|
8
|
(HPO:0002716)
|
Lymphadenopathy |
|
|
|
|
129 / 7739
|
|
9
|
(HPO:0004429)
|
Recurrent viral infections |
|
|
|
|
20 / 7739
|
|
10
|
(HPO:0005523)
|
Lymphoproliferative disorder |
|
|
|
|
4 / 7739
|
|
11
|
(HPO:0008897)
|
Postnatal growth retardation |
|
|
|
|
113 / 7739
|
|
12
|
(OMIM)
|
Poor overall growth |
|
|
|
|
2 / 7739
|
|
13
|
(HPO:0002206)
|
Pulmonary fibrosis |
|
|
|
|
51 / 7739
|
|
14
|
(HPO:0006530)
|
Interstitial pulmonary disease |
|
|
|
|
26 / 7739
|
|
15
|
(OMIM)
|
Hyperpigmentation |
|
|
|
|
24 / 7739
|
|
16
|
(OMIM)
|
Delayed cognitive development, mild (reported in 1 family) |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Corticosteroid deficiency |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Decreased numbers of circulating NK cells (less than 5%) |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Increased susceptibility to cancer |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Cell studies show increased DNA breakage |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
ACTH increased |
|
|
|
|
3 / 7739
|
|
22
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
23
|
(HPO:0002878)
|
Respiratory failure |
rare [HPO:skoehler]
|
|
|
|
57 / 7739
|