|
1
|
(HPO:0000103)
|
Polyuria |
|
|
|
|
60 / 7739
|
|
2
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
|
3
|
(HPO:0000651)
|
Diplopia |
|
|
|
|
37 / 7739
|
|
4
|
(HPO:0001269)
|
Hemiparesis |
|
|
|
|
51 / 7739
|
|
5
|
(HPO:0001438)
|
Abnormality of the abdomen |
|
|
|
|
28 / 7739
|
|
6
|
(HPO:0001959)
|
Polydipsia |
|
|
|
|
43 / 7739
|
|
7
|
(HPO:0002514)
|
Cerebral calcification |
|
|
|
|
89 / 7739
|
|
8
|
(HPO:0009792)
|
Teratoma |
|
|
|
|
7 / 7739
|
|
9
|
(OMIM)
|
Abnormal intracranial calcification |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Pineal teratoma |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Upward gaze palsy |
|
|
|
|
3 / 7739
|
|
12
|
(HPO:0002039)
|
Anorexia |
|
|
|
|
62 / 7739
|
|
13
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|