|
1
|
(HPO:0001999)
|
Abnormal facial shape |
|
|
17940005
|
IBIS
|
169 / 7739
|
|
2
|
(HPO:0002721)
|
Immunodeficiency |
|
|
17940005
|
IBIS
|
97 / 7739
|
|
3
|
(HPO:0004315)
|
IgG deficiency |
|
|
17940005
|
IBIS
|
38 / 7739
|
|
4
|
(HPO:0004322)
|
Short stature |
|
|
17940005
|
IBIS
|
1232 / 7739
|
|
5
|
(HPO:0011133)
|
Increased sensitivity to ionizing radiation |
|
|
17940005
|
IBIS
|
2 / 7739
|
|
6
|
(HPO:0011342)
|
Mild global developmental delay |
|
|
17940005
|
IBIS
|
10 / 7739
|
|
7
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
8
|
(HPO:0000252)
|
Microcephaly |
rare [HPO:skoehler]
|
|
|
|
832 / 7739
|
|
9
|
(HPO:0000958)
|
Dry skin |
|
|
|
|
152 / 7739
|
|
10
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
11
|
(HPO:0002206)
|
Pulmonary fibrosis |
rare [HPO:skoehler]
|
|
|
|
51 / 7739
|