|
1
|
(HPO:0001250)
|
Seizures |
Very frequent [Orphanet]
|
|
11170073
|
IBIS
|
1245 / 7739
|
|
2
|
(HPO:0001010)
|
Hypopigmentation of the skin |
Very frequent [Orphanet]
|
|
|
|
46 / 7739
|
|
3
|
(HPO:0001022)
|
Albinism |
Very frequent [Orphanet]
|
|
707528
|
IBIS
|
43 / 7739
|
|
4
|
(HPO:0002066)
|
Gait ataxia |
Very frequent [Orphanet]
|
|
11170073
|
IBIS
|
327 / 7739
|
|
5
|
(HPO:0002514)
|
Cerebral calcification |
Occasional [Orphanet]
|
|
|
|
89 / 7739
|
|
6
|
(HPO:0002216)
|
Premature graying of hair |
Very frequent [Orphanet]
|
|
|
|
43 / 7739
|
|
7
|
(HPO:0100022)
|
Abnormality of movement |
Very frequent [Orphanet]
|
|
|
|
129 / 7739
|
|
8
|
(HPO:0001107)
|
Ocular albinism |
Very frequent [Orphanet]
|
|
11170073
|
IBIS
|
40 / 7739
|
|
9
|
(HPO:0001249)
|
Intellectual disability |
|
|
9207796
|
IBIS
|
1089 / 7739
|
|
10
|
(HPO:0001263)
|
Global developmental delay |
|
|
11170073
|
IBIS
|
853 / 7739
|
|
11
|
(HPO:0000639)
|
Nystagmus |
Very frequent [Orphanet]
|
|
11170073
|
IBIS
|
555 / 7739
|
|
12
|
(HPO:0001008)
|
Accumulation of melanosomes in melanocytes |
|
|
10835631
|
IBIS
|
4 / 7739
|
|
13
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
10052404
|
IBIS
|
990 / 7739
|
|
14
|
(HPO:0002218)
|
Silver-gray hair |
|
|
11170073
|
IBIS
|
6 / 7739
|
|
15
|
(HPO:0002220)
|
Melanin pigment aggregation in hair shafts |
|
|
10052404
|
IBIS
|
4 / 7739
|
|
16
|
(HPO:0003119)
|
Abnormality of lipid metabolism |
Frequent [Orphanet]
|
|
|
|
60 / 7739
|
|
17
|
(OMIM)
|
Roving eye movements |
|
|
19318926
|
IBIS
|
3 / 7739
|
|
18
|
(OMIM)
|
Poor visual fixation |
|
|
|
|
4 / 7739
|
|
19
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
10052404
|
IBIS
|
482 / 7739
|
|
20
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
10052404
|
IBIS
|
466 / 7739
|
|
21
|
(OMIM)
|
No immunologic abnormalities |
|
|
11170073
|
IBIS
|
2 / 7739
|
|
22
|
(HPO:0012758)
|
Neurodevelopmental delay |
Frequent [Orphanet]
|
|
9207796
|
IBIS
|
949 / 7739
|