|
1
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
2
|
(HPO:0000405)
|
Conductive hearing impairment |
|
|
|
|
164 / 7739
|
|
3
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
|
|
524 / 7739
|
|
4
|
(HPO:0000793)
|
Membranoproliferative glomerulonephritis |
rare [HPO:skoehler]
|
|
|
|
8 / 7739
|
|
5
|
(HPO:0000964)
|
Eczema |
|
|
|
|
81 / 7739
|
|
6
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
7
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
8
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
9
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
10
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
11
|
(HPO:0001875)
|
Neutropenia |
|
|
|
|
83 / 7739
|
|
12
|
(HPO:0001878)
|
Hemolytic anemia |
rare [HPO:skoehler]
|
|
|
|
83 / 7739
|
|
13
|
(HPO:0001888)
|
Lymphopenia |
|
|
|
|
43 / 7739
|
|
14
|
(HPO:0002099)
|
Asthma |
|
|
|
|
62 / 7739
|
|
15
|
(HPO:0002110)
|
Bronchiectasis |
|
|
|
|
73 / 7739
|
|
16
|
(HPO:0002205)
|
Recurrent respiratory infections |
|
|
|
|
254 / 7739
|
|
17
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
18
|
(HPO:0002721)
|
Immunodeficiency |
|
|
|
|
97 / 7739
|
|
19
|
(HPO:0003193)
|
Allergic rhinitis |
|
|
|
|
6 / 7739
|
|
20
|
(HPO:0003474)
|
Sensory impairment |
|
|
|
|
54 / 7739
|
|
21
|
(HPO:0040148)
|
Cortical myoclonus |
|
|
|
|
1 / 7739
|
|
22
|
(HPO:0100543)
|
Cognitive impairment |
|
|
|
|
230 / 7739
|
|
23
|
(HPO:0200029)
|
Vasculitis in the skin |
|
|
|
|
6 / 7739
|