1
|
(HPO:0000478)
|
Abnormality of the eye |
Frequent [Orphanet]
|
|
|
|
126 / 7739
|
2
|
(HPO:0009830)
|
Peripheral neuropathy |
Occasional [Orphanet]
|
|
|
|
206 / 7739
|
3
|
(HPO:0001250)
|
Seizures |
Frequent [Orphanet]
|
|
|
|
1245 / 7739
|
4
|
(HPO:0002334)
|
Abnormality of the cerebellar vermis |
Very frequent [Orphanet]
|
|
|
|
137 / 7739
|
5
|
(HPO:0001410)
|
Decreased liver function |
Occasional [Orphanet]
|
|
|
|
59 / 7739
|
6
|
(HPO:0000337)
|
Broad forehead |
Frequent [Orphanet]
|
|
|
|
116 / 7739
|
7
|
(HPO:0004404)
|
Abnormality of the nipple |
Very frequent [Orphanet]
|
|
|
|
54 / 7739
|
8
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
9
|
(HPO:0001697)
|
Abnormality of the pericardium |
Frequent [Orphanet]
|
|
|
|
52 / 7739
|
10
|
(HPO:0002910)
|
Elevated hepatic transaminases |
Very frequent [Orphanet]
|
|
|
|
158 / 7739
|
11
|
(HPO:0006568)
|
Increased hepatic glycogen content |
Very frequent [Orphanet]
|
|
|
|
34 / 7739
|
12
|
(HPO:0004325)
|
Decreased body weight |
Very frequent [Orphanet]
|
|
|
|
492 / 7739
|
13
|
(HPO:0006709)
|
Aplasia/Hypoplasia of the nipples |
Very frequent [Orphanet]
|
|
|
|
28 / 7739
|
14
|
(HPO:0011013)
|
Abnormality of carbohydrate metabolism/homeostasis |
Very frequent [Orphanet]
|
|
|
|
2 / 7739
|
15
|
(HPO:0008373)
|
Puberty and gonadal disorders |
Frequent [Orphanet]
|
|
|
|
156 / 7739
|
16
|
(HPO:0001928)
|
Abnormality of coagulation |
Very frequent [Orphanet]
|
|
|
|
44 / 7739
|
17
|
(HPO:0002250)
|
Abnormality of the large intestine |
Occasional [Orphanet]
|
|
|
|
32 / 7739
|
18
|
(HPO:0000112)
|
Nephropathy |
Occasional [Orphanet]
|
|
|
|
92 / 7739
|
19
|
(HPO:0000510)
|
Rod-cone dystrophy |
Very frequent [Orphanet]
|
|
|
|
266 / 7739
|
20
|
(HPO:0001943)
|
Hypoglycemia |
Frequent [Orphanet]
|
|
|
|
131 / 7739
|
21
|
(HPO:0000486)
|
Strabismus |
Very frequent [Orphanet]
|
|
|
|
576 / 7739
|
22
|
(HPO:0010978)
|
Abnormality of immune system physiology |
Very frequent [Orphanet]
|
|
|
|
148 / 7739
|
23
|
(HPO:0002120)
|
Cerebral cortical atrophy |
Very frequent [Orphanet]
|
|
|
|
187 / 7739
|
24
|
(HPO:0001541)
|
Ascites |
Occasional [Orphanet]
|
|
|
|
94 / 7739
|
25
|
(HPO:0001638)
|
Cardiomyopathy |
Frequent [Orphanet]
|
|
|
|
192 / 7739
|
26
|
(HPO:0009125)
|
Lipodystrophy |
Very frequent [Orphanet]
|
|
|
|
54 / 7739
|