|
1
|
(HPO:0001875)
|
Neutropenia |
Very frequent [IBIS]
|
|
25117010
|
IBIS
|
83 / 7739
|
|
2
|
(HPO:0011869)
|
Abnormal platelet function |
Very frequent [IBIS]
|
|
|
|
12 / 7739
|
|
3
|
(HPO:0002721)
|
Immunodeficiency |
Frequent [IBIS]
|
|
25117010
|
IBIS
|
97 / 7739
|
|
4
|
(HPO:0000219)
|
Thin upper lip vermilion |
|
|
|
|
112 / 7739
|
|
5
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
6
|
(HPO:0000280)
|
Coarse facial features |
|
|
|
|
189 / 7739
|
|
7
|
(HPO:0000319)
|
Smooth philtrum |
|
|
|
|
72 / 7739
|
|
8
|
(HPO:0000343)
|
Long philtrum |
|
|
|
|
262 / 7739
|
|
9
|
(HPO:0000358)
|
Posteriorly rotated ears |
|
|
|
|
163 / 7739
|
|
10
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
11
|
(HPO:0000431)
|
Wide nasal bridge |
|
|
|
|
290 / 7739
|
|
12
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
|
13
|
(HPO:0000505)
|
Visual impairment |
|
|
|
|
297 / 7739
|
|
14
|
(HPO:0000582)
|
Upslanted palpebral fissure |
|
|
|
|
185 / 7739
|
|
15
|
(HPO:0000613)
|
Photophobia |
|
|
|
|
158 / 7739
|
|
16
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
|
17
|
(HPO:0000670)
|
Carious teeth |
|
|
|
|
145 / 7739
|
|
18
|
(HPO:0000704)
|
Periodontitis |
|
|
|
|
24 / 7739
|
|
19
|
(HPO:0001022)
|
Albinism |
|
|
|
|
43 / 7739
|
|
20
|
(HPO:0001107)
|
Ocular albinism |
|
|
|
|
40 / 7739
|
|
21
|
(HPO:0001256)
|
Intellectual disability, mild |
|
|
|
|
141 / 7739
|
|
22
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
23
|
(HPO:0001385)
|
Hip dysplasia |
|
|
|
|
242 / 7739
|
|
24
|
(HPO:0001744)
|
Splenomegaly |
|
|
|
|
337 / 7739
|
|
25
|
(HPO:0001873)
|
Thrombocytopenia |
|
|
|
|
224 / 7739
|
|
26
|
(HPO:0002206)
|
Pulmonary fibrosis |
|
|
|
|
51 / 7739
|
|
27
|
(HPO:0002240)
|
Hepatomegaly |
|
|
|
|
467 / 7739
|
|
28
|
(HPO:0002286)
|
Fair hair |
|
|
|
|
20 / 7739
|
|
29
|
(HPO:0002718)
|
Recurrent bacterial infections |
|
|
|
|
75 / 7739
|
|
30
|
(HPO:0007384)
|
Aberrant melanosome maturation |
|
|
|
|
4 / 7739
|
|
31
|
(HPO:0008807)
|
Acetabular dysplasia |
|
|
|
|
6 / 7739
|
|
32
|
(OMIM)
|
Protruding midface |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Long, flat philtrum |
|
|
|
|
5 / 7739
|
|
34
|
(OMIM)
|
Ocular albinism, tyrosinase-positive |
|
|
|
|
1 / 7739
|
|
35
|
(OMIM)
|
Dental decay due to recurrent bacterial periodontitis |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Pulmonary fibrosis due to recurrent infections |
|
|
|
|
1 / 7739
|
|
37
|
(HPO:0007513)
|
Generalized hypopigmentation |
|
|
|
|
12 / 7739
|
|
38
|
(OMIM)
|
Cutaneous albinism, tyrosinase-positive |
|
|
|
|
1 / 7739
|
|
39
|
(OMIM)
|
Motor retardation, mild |
|
|
|
|
1 / 7739
|
|
40
|
(OMIM)
|
Absence of platelet dense bodies |
|
|
|
|
1 / 7739
|
|
41
|
(OMIM)
|
Neutrophils show disorganized lysosomal compartments on ultrastructural analysis |
|
|
|
|
1 / 7739
|
|
42
|
(OMIM)
|
Decreased numbers of natural killer cells (NK) |
|
|
|
|
1 / 7739
|
|
43
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
44
|
(HPO:0003577)
|
Congenital onset |
|
|
|
|
133 / 7739
|
|
45
|
(HPO:0007663)
|
Reduced visual acuity |
|
|
|
|
100 / 7739
|