|
1
|
(HPO:0009830)
|
Peripheral neuropathy |
Very frequent [Orphanet]
|
|
|
|
206 / 7739
|
|
2
|
(HPO:0000572)
|
Visual loss |
Frequent [Orphanet]
|
|
|
|
272 / 7739
|
|
3
|
(HPO:0002334)
|
Abnormality of the cerebellar vermis |
Occasional [Orphanet]
|
|
|
|
137 / 7739
|
|
4
|
(HPO:0000421)
|
Epistaxis |
Frequent [Orphanet]
|
|
|
|
85 / 7739
|
|
5
|
(HPO:0001010)
|
Hypopigmentation of the skin |
Very frequent [Orphanet]
|
|
|
|
46 / 7739
|
|
6
|
(HPO:0001022)
|
Albinism |
Very frequent [Orphanet]
|
|
|
|
43 / 7739
|
|
7
|
(HPO:0200042)
|
Skin ulcer |
Very frequent [Orphanet]
|
|
|
|
138 / 7739
|
|
8
|
(HPO:0001107)
|
Ocular albinism |
Very frequent [Orphanet]
|
|
|
|
40 / 7739
|
|
9
|
(HPO:0001903)
|
Anemia |
Very frequent [Orphanet]
|
|
|
|
289 / 7739
|
|
10
|
(HPO:0005599)
|
Hypopigmentation of hair |
Very frequent [Orphanet]
|
|
|
|
38 / 7739
|
|
11
|
(HPO:0001276)
|
Hypertonia |
Occasional [Orphanet]
|
|
|
|
317 / 7739
|
|
12
|
(HPO:0000978)
|
Bruising susceptibility |
Frequent [Orphanet]
|
|
|
|
123 / 7739
|
|
13
|
(HPO:0002716)
|
Lymphadenopathy |
Very frequent [Orphanet]
|
|
|
|
129 / 7739
|
|
14
|
(HPO:0001265)
|
Hyporeflexia |
|
|
|
|
208 / 7739
|
|
15
|
(HPO:0001315)
|
Reduced tendon reflexes |
Very frequent [Orphanet]
|
|
|
|
160 / 7739
|
|
16
|
(HPO:0000613)
|
Photophobia |
Frequent [Orphanet]
|
|
|
|
158 / 7739
|
|
17
|
(HPO:0002239)
|
Gastrointestinal hemorrhage |
Occasional [Orphanet]
|
|
|
|
97 / 7739
|
|
18
|
(HPO:0001873)
|
Thrombocytopenia |
Very frequent [Orphanet]
|
|
|
|
224 / 7739
|
|
19
|
(HPO:0000952)
|
Jaundice |
|
|
|
|
105 / 7739
|
|
20
|
(HPO:0001396)
|
Cholestasis |
Occasional [Orphanet]
|
|
|
|
136 / 7739
|
|
21
|
(HPO:0000639)
|
Nystagmus |
Frequent [Orphanet]
|
|
|
|
555 / 7739
|
|
22
|
(HPO:0000225)
|
Gingival bleeding |
Very frequent [Orphanet]
|
|
|
|
28 / 7739
|
|
23
|
(HPO:0002205)
|
Recurrent respiratory infections |
Very frequent [Orphanet]
|
|
|
|
254 / 7739
|
|
24
|
(HPO:0001874)
|
Abnormality of neutrophils |
Very frequent [Orphanet]
|
|
|
|
47 / 7739
|
|
25
|
(HPO:0000704)
|
Periodontitis |
Very frequent [Orphanet]
|
|
|
|
24 / 7739
|
|
26
|
(HPO:0002071)
|
Abnormality of extrapyramidal motor function |
Occasional [Orphanet]
|
|
|
|
76 / 7739
|
|
27
|
(HPO:0001337)
|
Tremor |
Frequent [Orphanet]
|
|
|
|
200 / 7739
|
|
28
|
(HPO:0001744)
|
Splenomegaly |
Very frequent [Orphanet]
|
|
|
|
337 / 7739
|
|
29
|
(HPO:0002240)
|
Hepatomegaly |
Very frequent [Orphanet]
|
|
|
|
467 / 7739
|
|
30
|
(HPO:0001945)
|
Fever |
Very frequent [Orphanet]
|
|
|
|
218 / 7739
|
|
31
|
(HPO:0100022)
|
Abnormality of movement |
Occasional [Orphanet]
|
|
|
|
129 / 7739
|
|
32
|
(HPO:0000953)
|
Hyperpigmentation of the skin |
Occasional [Orphanet]
|
|
|
|
75 / 7739
|
|
33
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
34
|
(HPO:0000230)
|
Gingivitis |
|
|
|
|
31 / 7739
|
|
35
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
|
36
|
(HPO:0000505)
|
Visual impairment |
|
|
|
|
297 / 7739
|
|
37
|
(HPO:0000762)
|
Decreased nerve conduction velocity |
|
|
|
|
36 / 7739
|
|
38
|
(HPO:0001104)
|
Macular hypoplasia |
|
|
|
|
9 / 7739
|
|
39
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
40
|
(HPO:0001288)
|
Gait disturbance |
|
|
|
|
318 / 7739
|
|
41
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
42
|
(HPO:0001882)
|
Leukopenia |
|
|
|
|
51 / 7739
|
|
43
|
(HPO:0002180)
|
Neurodegeneration |
|
|
|
|
31 / 7739
|
|
44
|
(HPO:0005429)
|
Recurrent systemic pyogenic infections |
|
|
|
|
1 / 7739
|
|
45
|
(HPO:0005592)
|
Giant melanosomes in melanocytes |
|
|
|
|
4 / 7739
|
|
46
|
(HPO:0006824)
|
Cranial nerve paralysis |
|
|
|
|
81 / 7739
|
|
47
|
(HPO:0007133)
|
Progressive peripheral neuropathy |
|
|
|
|
4 / 7739
|
|
48
|
(HPO:0007730)
|
Iris hypopigmentation |
|
|
|
|
4 / 7739
|
|
49
|
(HPO:0009027)
|
Foot dorsiflexor weakness |
|
|
|
|
45 / 7739
|
|
50
|
(HPO:0100838)
|
Recurrent cutaneous abscess formation |
Very frequent [Orphanet]
|
|
|
|
15 / 7739
|
|
51
|
(OMIM)
|
Pseudomembranous sloughing of buccal mucosa |
|
|
|
|
1 / 7739
|
|
52
|
(OMIM)
|
Mild/severe skin hypopigmentation |
|
|
|
|
1 / 7739
|
|
53
|
(OMIM)
|
Mild hair hypopigmentation |
|
|
|
|
1 / 7739
|
|
54
|
(OMIM)
|
Giant granules in muscle cells |
|
|
|
|
1 / 7739
|
|
55
|
(OMIM)
|
Progressive intellectual decline |
|
|
|
|
1 / 7739
|
|
56
|
(OMIM)
|
Markedly delayed nerve conduction velocities |
|
|
|
|
1 / 7739
|
|
57
|
(OMIM)
|
Diffuse brain and spinal cord atrophy on brain CT/MRI |
|
|
|
|
1 / 7739
|
|
58
|
(OMIM)
|
Giant granules in Schwann cells |
|
|
|
|
1 / 7739
|
|
59
|
(OMIM)
|
Giant inclusion bodies present in most granulated cells |
|
|
|
|
1 / 7739
|
|
60
|
(OMIM)
|
Recurrent cutaneous and systemic pyogenic infections |
|
|
|
|
1 / 7739
|
|
61
|
(OMIM)
|
Absent natural killer cell cytotoxicity |
|
|
|
|
2 / 7739
|
|
62
|
(OMIM)
|
Normal B cell function |
|
|
|
|
1 / 7739
|
|
63
|
(OMIM)
|
Decreased neutrophil and monocyte migration and chemotaxis |
|
|
|
|
1 / 7739
|
|
64
|
(OMIM)
|
Lymphadenopathy in late phase |
|
|
|
|
1 / 7739
|
|
65
|
(OMIM)
|
Generalized lymphohistiocytic infiltrates in late phase |
|
|
|
|
1 / 7739
|
|
66
|
(OMIM)
|
Erythrophagocytosis in late phase |
|
|
|
|
1 / 7739
|
|
67
|
(HPO:0100543)
|
Cognitive impairment |
Occasional [Orphanet]
|
|
|
|
230 / 7739
|
|
68
|
(HPO:0000763)
|
Sensory neuropathy |
Very frequent [Orphanet]
|
|
|
|
78 / 7739
|
|
69
|
(HPO:0012145)
|
Abnormality of multiple cell lineages in the bone marrow |
Very frequent [Orphanet]
|
|
|
|
11 / 7739
|
|
70
|
(HPO:0010978)
|
Abnormality of immune system physiology |
Very frequent [Orphanet]
|
|
|
|
148 / 7739
|
|
71
|
(HPO:0001522)
|
Death in infancy |
Occasional [Orphanet]
|
|
|
|
275 / 7739
|
|
72
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
73
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
74
|
(HPO:0007663)
|
Reduced visual acuity |
|
|
|
|
100 / 7739
|