|
1
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
2
|
(HPO:0000388)
|
Otitis media |
|
|
|
|
28 / 7739
|
|
3
|
(HPO:0000704)
|
Periodontitis |
|
|
|
|
24 / 7739
|
|
4
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
5
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
6
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
7
|
(HPO:0001574)
|
Abnormality of the integument |
|
|
|
|
4 / 7739
|
|
8
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
|
|
|
|
328 / 7739
|
|
9
|
(HPO:0002090)
|
Pneumonia |
|
|
|
|
59 / 7739
|
|
10
|
(HPO:0002120)
|
Cerebral cortical atrophy |
|
|
|
|
187 / 7739
|
|
11
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
12
|
(HPO:0005400)
|
Reduction of neutrophil motility |
|
|
|
|
1 / 7739
|
|
13
|
(HPO:0006887)
|
Intellectual disability, progressive |
|
|
|
|
68 / 7739
|
|
14
|
(HPO:0010864)
|
Intellectual disability, severe |
|
|
|
|
120 / 7739
|
|
15
|
(OMIM)
|
Localized cellulitis |
|
|
|
|
1 / 7739
|
|
16
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
17
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
18
|
(OMIM)
|
Bombay (hh) blood phenotype |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Red blood cells lack H- antigen |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Lewis a- and b- negative cells |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Markedly reduced neutrophil motility |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Slightly reduced neutrophil adherence |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Absent sialyl-Lewis X ligand (SLeX) expression |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
Absence of pus formation at site of infection |
|
|
|
|
1 / 7739
|
|
25
|
(OMIM)
|
Neutrophilia, both basal and during infections |
|
|
|
|
1 / 7739
|
|
26
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|