|
1
|
(HPO:0000238)
|
Hydrocephalus |
Occasional [Orphanet]
|
|
|
|
278 / 7739
|
|
2
|
(HPO:0000534)
|
Abnormality of the eyebrow |
Occasional [Orphanet]
|
|
|
|
39 / 7739
|
|
3
|
(HPO:0000639)
|
Nystagmus |
Occasional [Orphanet]
|
|
|
|
555 / 7739
|
|
4
|
(HPO:0001053)
|
Hypopigmented skin patches |
Very frequent [Orphanet]
|
|
|
|
80 / 7739
|
|
5
|
(HPO:0001107)
|
Ocular albinism |
Occasional [Orphanet]
|
|
|
|
40 / 7739
|
|
6
|
(HPO:0001250)
|
Seizures |
Occasional [Orphanet]
|
|
|
|
1245 / 7739
|
|
7
|
(HPO:0001252)
|
Muscular hypotonia |
Occasional [Orphanet]
|
|
|
|
990 / 7739
|
|
8
|
(HPO:0001276)
|
Hypertonia |
Occasional [Orphanet]
|
|
|
|
317 / 7739
|
|
9
|
(HPO:0001315)
|
Reduced tendon reflexes |
Frequent [Orphanet]
|
|
|
|
160 / 7739
|
|
10
|
(HPO:0001541)
|
Ascites |
Occasional [Orphanet]
|
|
|
|
94 / 7739
|
|
11
|
(HPO:0001744)
|
Splenomegaly |
Occasional [Orphanet]
|
|
|
|
337 / 7739
|
|
12
|
(HPO:0001873)
|
Thrombocytopenia |
Frequent [Orphanet]
|
|
|
|
224 / 7739
|
|
13
|
(HPO:0001874)
|
Abnormality of neutrophils |
Frequent [Orphanet]
|
|
|
|
47 / 7739
|
|
14
|
(HPO:0001882)
|
Leukopenia |
Frequent [Orphanet]
|
|
|
|
51 / 7739
|
|
15
|
(HPO:0002084)
|
Encephalocele |
Occasional [Orphanet]
|
|
|
|
70 / 7739
|
|
16
|
(HPO:0002120)
|
Cerebral cortical atrophy |
Occasional [Orphanet]
|
|
|
|
187 / 7739
|
|
17
|
(HPO:0002216)
|
Premature graying of hair |
Very frequent [Orphanet]
|
|
|
|
43 / 7739
|
|
18
|
(HPO:0002240)
|
Hepatomegaly |
Occasional [Orphanet]
|
|
|
|
467 / 7739
|
|
19
|
(HPO:0002066)
|
Gait ataxia |
Occasional [Orphanet]
|
|
|
|
327 / 7739
|
|
20
|
(HPO:0002716)
|
Lymphadenopathy |
Frequent [Orphanet]
|
|
|
|
129 / 7739
|
|
21
|
(HPO:0003119)
|
Abnormality of lipid metabolism |
Frequent [Orphanet]
|
|
|
|
60 / 7739
|
|
22
|
(HPO:0004322)
|
Short stature |
Occasional [Orphanet]
|
|
|
|
1232 / 7739
|
|
23
|
(HPO:0006824)
|
Cranial nerve paralysis |
Occasional [Orphanet]
|
|
|
|
81 / 7739
|
|
24
|
(HPO:0010741)
|
Edema of the lower limbs |
Occasional [Orphanet]
|
|
|
|
34 / 7739
|
|
25
|
(HPO:0100022)
|
Abnormality of movement |
Occasional [Orphanet]
|
|
|
|
129 / 7739
|
|
26
|
(HPO:0001022)
|
Albinism |
Very frequent [Orphanet]
|
|
|
|
43 / 7739
|
|
27
|
(HPO:0001396)
|
Cholestasis |
Occasional [Orphanet]
|
|
|
|
136 / 7739
|
|
28
|
(HPO:0001876)
|
Pancytopenia |
Occasional [Orphanet]
|
|
|
|
89 / 7739
|
|
29
|
(HPO:0001945)
|
Fever |
Occasional [Orphanet]
|
|
|
|
218 / 7739
|
|
30
|
(HPO:0010978)
|
Abnormality of immune system physiology |
Frequent [Orphanet]
|
|
|
|
148 / 7739
|
|
31
|
(HPO:0012758)
|
Neurodevelopmental delay |
Occasional [Orphanet]
|
|
|
|
949 / 7739
|
|
32
|
(HPO:0010701)
|
Abnormal immunoglobulin level |
Frequent [Orphanet]
|
|
|
|
49 / 7739
|
|
33
|
(HPO:0000606)
|
Abnormality of the periorbital region |
Occasional [Orphanet]
|
|
|
|
96 / 7739
|
|
34
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
35
|
(HPO:0001008)
|
Accumulation of melanosomes in melanocytes |
|
|
|
|
4 / 7739
|
|
36
|
(HPO:0001010)
|
Hypopigmentation of the skin |
|
|
|
|
46 / 7739
|
|
37
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
38
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
39
|
(HPO:0002218)
|
Silver-gray hair |
|
|
|
|
6 / 7739
|
|
40
|
(HPO:0002220)
|
Melanin pigment aggregation in hair shafts |
|
|
|
|
4 / 7739
|
|
41
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|