|
1
|
(HPO:0001874)
|
Abnormality of neutrophils |
Frequent [Orphanet]
|
|
|
|
47 / 7739
|
|
2
|
(HPO:0010783)
|
Erythema |
Occasional [Orphanet]
|
|
|
|
138 / 7739
|
|
3
|
(HPO:0001876)
|
Pancytopenia |
Occasional [Orphanet]
|
|
|
|
89 / 7739
|
|
4
|
(HPO:0002216)
|
Premature graying of hair |
Very frequent [Orphanet]
|
|
|
|
43 / 7739
|
|
5
|
(HPO:0001053)
|
Hypopigmented skin patches |
Very frequent [Orphanet]
|
|
|
|
80 / 7739
|
|
6
|
(HPO:0001107)
|
Ocular albinism |
Occasional [Orphanet]
|
|
|
|
40 / 7739
|
|
7
|
(HPO:0005599)
|
Hypopigmentation of hair |
Very frequent [Orphanet]
|
|
|
|
38 / 7739
|
|
8
|
(HPO:0001257)
|
Spasticity |
|
|
|
|
251 / 7739
|
|
9
|
(HPO:0001276)
|
Hypertonia |
Occasional [Orphanet]
|
|
|
|
317 / 7739
|
|
10
|
(HPO:0001744)
|
Splenomegaly |
Occasional [Orphanet]
|
|
|
|
337 / 7739
|
|
11
|
(HPO:0002716)
|
Lymphadenopathy |
Frequent [Orphanet]
|
|
|
|
129 / 7739
|
|
12
|
(HPO:0001250)
|
Seizures |
Occasional [Orphanet]
|
|
|
|
1245 / 7739
|
|
13
|
(HPO:0002718)
|
Recurrent bacterial infections |
|
|
|
|
75 / 7739
|
|
14
|
(HPO:0002240)
|
Hepatomegaly |
Frequent [Orphanet]
|
|
|
|
467 / 7739
|
|
15
|
(HPO:0002017)
|
Nausea and vomiting |
Occasional [Orphanet]
|
|
|
|
134 / 7739
|
|
16
|
(HPO:0001945)
|
Fever |
Occasional [Orphanet]
|
|
|
|
218 / 7739
|
|
17
|
(HPO:0001287)
|
Meningitis |
Occasional [Orphanet]
|
|
|
|
46 / 7739
|
|
18
|
(HPO:0001396)
|
Cholestasis |
Frequent [Orphanet]
|
|
|
|
136 / 7739
|
|
19
|
(HPO:0002113)
|
Pulmonary infiltrates |
Occasional [Orphanet]
|
|
|
|
36 / 7739
|
|
20
|
(HPO:0001008)
|
Accumulation of melanosomes in melanocytes |
|
|
|
|
4 / 7739
|
|
21
|
(HPO:0001010)
|
Hypopigmentation of the skin |
|
|
|
|
46 / 7739
|
|
22
|
(HPO:0001317)
|
Abnormality of the cerebellum |
|
|
|
|
36 / 7739
|
|
23
|
(HPO:0001933)
|
Subcutaneous hemorrhage |
Occasional [Orphanet]
|
|
|
|
50 / 7739
|
|
24
|
(HPO:0002218)
|
Silver-gray hair |
|
|
|
|
6 / 7739
|
|
25
|
(HPO:0002220)
|
Melanin pigment aggregation in hair shafts |
|
|
|
|
4 / 7739
|
|
26
|
(HPO:0002344)
|
Progressive neurologic deterioration |
Occasional [HPO:probinson]
|
|
|
|
27 / 7739
|
|
27
|
(HPO:0002972)
|
Reduced delayed hypersensitivity |
|
|
|
|
7 / 7739
|
|
28
|
(HPO:0003119)
|
Abnormality of lipid metabolism |
Frequent [Orphanet]
|
|
|
|
60 / 7739
|
|
29
|
(HPO:0010978)
|
Abnormality of immune system physiology |
Very frequent [Orphanet]
|
|
|
|
148 / 7739
|
|
30
|
(OMIM)
|
Variable neurologic deterioration (likely result of hemophagocytic syndrome) |
|
|
|
|
1 / 7739
|
|
31
|
(OMIM)
|
Hemophagocytic syndrome (HS) characterized by acute onset of uncontrolled T-lymphocyte and macrophage activation |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
Lymphohistiocytic infiltration and hemophagocytosis in multiple organs |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
T-cells show reduced cytotoxicity and reduced cytolytic granule exocytosis |
|
|
|
|
1 / 7739
|
|
34
|
(OMIM)
|
Humoral deficiency (likely result of T-cell abnormalities) |
|
|
|
|
1 / 7739
|
|
35
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
36
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|
|
37
|
(HPO:0003819)
|
Death in childhood |
|
|
|
|
42 / 7739
|