|
1
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
2
|
(HPO:0000278)
|
Retrognathia |
|
|
|
|
100 / 7739
|
|
3
|
(HPO:0000286)
|
Epicanthus |
|
|
|
|
371 / 7739
|
|
4
|
(HPO:0000311)
|
Round face |
|
|
|
|
104 / 7739
|
|
5
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
|
6
|
(HPO:0000331)
|
Short chin |
|
|
|
|
33 / 7739
|
|
7
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
8
|
(HPO:0000463)
|
Anteverted nares |
|
|
|
|
305 / 7739
|
|
9
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
10
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
11
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
|
12
|
(HPO:0002090)
|
Pneumonia |
|
|
|
|
59 / 7739
|
|
13
|
(HPO:0003196)
|
Short nose |
|
|
|
|
264 / 7739
|
|
14
|
(HPO:0004313)
|
Decreased antibody level in blood |
|
|
|
|
47 / 7739
|
|
15
|
(HPO:0004469)
|
Chronic bronchitis |
|
|
|
|
17 / 7739
|
|
16
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
|
|
381 / 7739
|
|
17
|
(MedDRA:10017888)
|
[DEL]Gastroenteritis |
|
|
|
|
3 / 7739
|
|
18
|
(HPO:0002719)
|
Recurrent infections |
|
|
|
|
107 / 7739
|
|
19
|
(OMIM)
|
Normal numbers of absolute B cells |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Reduced number of memory B cells |
|
|
|
|
4 / 7739
|
|
21
|
(OMIM)
|
Hypomethylation of alpha-satellite repeats on chromosome 9 |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Hypomethylation of satellite repeats on chromosome 1, 9, and 16 |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Chromosomal breakage and abnormalities of the juxtacentromeric regions of chromosomes 1, 9, and 16 |
|
|
|
|
1 / 7739
|
|
24
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
25
|
(HPO:0002721)
|
Immunodeficiency |
|
|
|
|
97 / 7739
|
|
26
|
(HPO:0003577)
|
Congenital onset |
|
|
|
|
133 / 7739
|