|
1
|
(HPO:0002024)
|
Malabsorption |
Very frequent [Orphanet]
|
|
|
|
142 / 7739
|
|
2
|
(HPO:0001250)
|
Seizures |
Very frequent [Orphanet]
|
|
|
|
1245 / 7739
|
|
3
|
(HPO:0002514)
|
Cerebral calcification |
Very frequent [Orphanet]
|
|
|
|
89 / 7739
|
|
4
|
(HPO:0002250)
|
Abnormality of the large intestine |
Very frequent [Orphanet]
|
|
|
|
32 / 7739
|
|
5
|
(HPO:0001903)
|
Anemia |
Very frequent [Orphanet]
|
|
|
|
289 / 7739
|
|
6
|
(HPO:0100659)
|
Abnormality of the cerebral vasculature |
Very frequent [Orphanet]
|
|
|
|
25 / 7739
|
|
7
|
(HPO:0000505)
|
Visual impairment |
Very frequent [Orphanet]
|
|
|
|
297 / 7739
|
|
8
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
9
|
(HPO:0012758)
|
Neurodevelopmental delay |
Occasional [Orphanet]
|
|
|
|
949 / 7739
|
|
10
|
(HPO:0002608)
|
Celiac disease |
|
|
|
|
5 / 7739
|