|
1
|
(HPO:0001513)
|
Obesity |
Frequent [Orphanet]
|
|
|
|
172 / 7739
|
|
2
|
(HPO:0000572)
|
Visual loss |
Frequent [Orphanet]
|
|
|
|
272 / 7739
|
|
3
|
(HPO:0002007)
|
Frontal bossing |
Occasional [Orphanet]
|
|
|
|
366 / 7739
|
|
4
|
(HPO:0000262)
|
Turricephaly |
Frequent [Orphanet]
|
|
|
|
38 / 7739
|
|
5
|
(HPO:0008734)
|
Decreased testicular size |
Occasional [Orphanet]
|
|
|
|
105 / 7739
|
|
6
|
(HPO:0000789)
|
Infertility |
Very frequent [Orphanet]
|
|
|
|
74 / 7739
|
|
7
|
(HPO:0000821)
|
Hypothyroidism |
Frequent [Orphanet]
|
|
|
|
141 / 7739
|
|
8
|
(HPO:0000505)
|
Visual impairment |
Frequent [Orphanet]
|
|
|
|
297 / 7739
|
|
9
|
(HPO:0000822)
|
Hypertension |
Frequent [Orphanet]
|
|
|
|
224 / 7739
|
|
10
|
(HPO:0000613)
|
Photophobia |
Very frequent [Orphanet]
|
|
|
|
158 / 7739
|
|
11
|
(HPO:0000054)
|
Micropenis |
Occasional [Orphanet]
|
|
|
|
257 / 7739
|
|
12
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Very frequent [Orphanet]
|
|
|
|
524 / 7739
|
|
13
|
(HPO:0005978)
|
Type II diabetes mellitus |
Frequent [Orphanet]
|
|
|
|
68 / 7739
|
|
14
|
(HPO:0000642)
|
Red-green dyschromatopsia |
Very frequent [Orphanet]
|
|
|
|
25 / 7739
|
|
15
|
(HPO:0000543)
|
Optic disc pallor |
|
|
|
|
67 / 7739
|
|
16
|
(HPO:0000980)
|
Pallor |
|
|
|
|
52 / 7739
|
|
17
|
(HPO:0001000)
|
Abnormality of skin pigmentation |
|
|
|
|
105 / 7739
|
|
18
|
(HPO:0003119)
|
Abnormality of lipid metabolism |
Occasional [Orphanet]
|
|
|
|
60 / 7739
|
|
19
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
|
|
214 / 7739
|
|
20
|
(HPO:0004904)
|
Maturity-onset diabetes of the young |
|
|
|
|
17 / 7739
|
|
21
|
(HPO:0005237)
|
Degenerative liver disease |
|
|
|
|
1 / 7739
|
|
22
|
(HPO:0007803)
|
Monochromacy |
|
|
|
|
3 / 7739
|
|
23
|
(HPO:0008020)
|
Progressive cone degeneration |
|
|
|
|
4 / 7739
|
|
24
|
(OMIM)
|
Attenuated retinal vessels |
|
|
|
|
4 / 7739
|
|
25
|
(OMIM)
|
Atrophic retinal appearance |
|
|
|
|
1 / 7739
|
|
26
|
(OMIM)
|
No retinal pigmentation |
|
|
|
|
1 / 7739
|
|
27
|
(OMIM)
|
Photopic function lost |
|
|
|
|
1 / 7739
|
|
28
|
(OMIM)
|
Scotopic function well preserved |
|
|
|
|
1 / 7739
|
|
29
|
(HPO:0006568)
|
Increased hepatic glycogen content |
Frequent [Orphanet]
|
|
|
|
34 / 7739
|
|
30
|
(HPO:0012758)
|
Neurodevelopmental delay |
Occasional [Orphanet]
|
|
|
|
949 / 7739
|
|
31
|
(HPO:0012795)
|
Abnormality of the optic disc |
Very frequent [Orphanet]
|
|
|
|
187 / 7739
|
|
32
|
(HPO:0011025)
|
Abnormality of cardiovascular system physiology |
Occasional [Orphanet]
|
|
|
|
41 / 7739
|
|
33
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|