|
1
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
2
|
(HPO:0000824)
|
Growth hormone deficiency |
rare [HPO:skoehler]
|
|
|
|
56 / 7739
|
|
3
|
(HPO:0001263)
|
Global developmental delay |
rare [HPO:skoehler]
|
|
|
|
853 / 7739
|
|
4
|
(HPO:0001596)
|
Alopecia |
rare [HPO:skoehler]
|
|
|
|
162 / 7739
|
|
5
|
(HPO:0002099)
|
Asthma |
|
|
|
|
62 / 7739
|
|
6
|
(HPO:0002205)
|
Recurrent respiratory infections |
|
|
|
|
254 / 7739
|
|
7
|
(HPO:0002721)
|
Immunodeficiency |
|
|
|
|
97 / 7739
|
|
8
|
(HPO:0004313)
|
Decreased antibody level in blood |
|
|
|
|
47 / 7739
|
|
9
|
(HPO:0008404)
|
Nail dystrophy |
rare [HPO:skoehler]
|
|
|
|
89 / 7739
|
|
10
|
(HPO:0011734)
|
Central adrenal insufficiency |
|
|
|
|
2 / 7739
|