1
|
(HPO:0000512)
|
Abnormal electroretinogram |
Very frequent [Orphanet]
|
|
|
|
61 / 7739
|
2
|
(HPO:0000639)
|
Nystagmus |
Very frequent [Orphanet]
|
|
|
|
555 / 7739
|
3
|
(HPO:0000708)
|
Behavioral abnormality |
Occasional [Orphanet]
|
|
|
|
212 / 7739
|
4
|
(HPO:0000771)
|
Gynecomastia |
Very frequent [Orphanet]
|
|
|
|
53 / 7739
|
5
|
(HPO:0000864)
|
Abnormality of the hypothalamus-pituitary axis |
Very frequent [Orphanet]
|
|
|
|
23 / 7739
|
6
|
(HPO:0001252)
|
Muscular hypotonia |
Frequent [Orphanet]
|
|
|
|
990 / 7739
|
7
|
(HPO:0002167)
|
Neurological speech impairment |
Very frequent [Orphanet]
|
|
|
|
308 / 7739
|
8
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
9
|
(HPO:0002066)
|
Gait ataxia |
Very frequent [Orphanet]
|
|
|
|
327 / 7739
|
10
|
(HPO:0002558)
|
Supernumerary nipple |
Occasional [Orphanet]
|
|
|
|
40 / 7739
|
11
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
Occasional [Orphanet]
|
|
|
|
288 / 7739
|
12
|
(HPO:0004322)
|
Short stature |
Occasional [Orphanet]
|
|
|
|
1232 / 7739
|
13
|
(HPO:0004374)
|
Hemiplegia/hemiparesis |
Frequent [Orphanet]
|
|
|
|
158 / 7739
|
14
|
(HPO:0000789)
|
Infertility |
Very frequent [Orphanet]
|
|
|
|
74 / 7739
|
15
|
(HPO:0000510)
|
Rod-cone dystrophy |
Very frequent [Orphanet]
|
|
|
|
266 / 7739
|
16
|
(HPO:0000248)
|
Brachycephaly |
Occasional [Orphanet]
|
|
|
|
222 / 7739
|
17
|
(HPO:0008373)
|
Puberty and gonadal disorders |
Very frequent [Orphanet]
|
|
|
|
156 / 7739
|
18
|
(HPO:0012795)
|
Abnormality of the optic disc |
Very frequent [Orphanet]
|
|
|
|
187 / 7739
|
19
|
(HPO:0100543)
|
Cognitive impairment |
Occasional [Orphanet]
|
|
|
|
230 / 7739
|
20
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
21
|
(HPO:0000044)
|
Hypogonadotrophic hypogonadism |
|
|
|
|
56 / 7739
|
22
|
(HPO:0000726)
|
Dementia |
|
|
|
|
131 / 7739
|
23
|
(HPO:0000876)
|
Oligomenorrhea |
rare [HPO:skoehler]
|
|
|
|
13 / 7739
|
24
|
(HPO:0000924)
|
Abnormality of the skeletal system |
|
|
|
|
114 / 7739
|
25
|
(HPO:0001135)
|
Chorioretinal dystrophy |
|
|
|
|
18 / 7739
|
26
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
27
|
(HPO:0001272)
|
Cerebellar atrophy |
|
|
|
|
197 / 7739
|
28
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
|
|
|
|
328 / 7739
|
29
|
(HPO:0002059)
|
Cerebral atrophy |
|
|
|
|
171 / 7739
|