|
1
|
(HPO:0000044)
|
Hypogonadotrophic hypogonadism |
Occasional [HPO:probinson]
|
|
|
|
56 / 7739
|
|
2
|
(HPO:0000666)
|
Horizontal nystagmus |
|
|
|
|
32 / 7739
|
|
3
|
(HPO:0000677)
|
Oligodontia |
Occasional [HPO:probinson]
|
|
|
|
41 / 7739
|
|
4
|
(HPO:0001151)
|
Impaired horizontal smooth pursuit |
|
|
|
|
7 / 7739
|
|
5
|
(HPO:0001256)
|
Intellectual disability, mild |
|
|
|
|
141 / 7739
|
|
6
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
7
|
(HPO:0001310)
|
Dysmetria |
|
|
|
|
76 / 7739
|
|
8
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
|
9
|
(HPO:0002080)
|
Intention tremor |
|
|
|
|
44 / 7739
|
|
10
|
(HPO:0006808)
|
Cerebral hypomyelination |
|
|
|
|
16 / 7739
|
|
11
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
12
|
(HPO:0000545)
|
Myopia |
|
|
|
|
286 / 7739
|
|
13
|
(HPO:0000668)
|
Hypodontia |
variable [HPO:skoehler]
|
|
|
|
81 / 7739
|
|
14
|
(HPO:0000684)
|
Delayed eruption of teeth |
|
|
|
|
117 / 7739
|
|
15
|
(HPO:0001257)
|
Spasticity |
variable [HPO:skoehler]
|
|
|
|
251 / 7739
|
|
16
|
(HPO:0001272)
|
Cerebellar atrophy |
|
|
|
|
197 / 7739
|
|
17
|
(HPO:0002015)
|
Dysphagia |
rare [HPO:skoehler]
|
|
|
|
301 / 7739
|
|
18
|
(HPO:0002075)
|
Dysdiadochokinesis |
|
|
|
|
40 / 7739
|
|
19
|
(HPO:0002079)
|
Hypoplasia of the corpus callosum |
|
|
|
|
161 / 7739
|
|
20
|
(HPO:0002415)
|
Leukodystrophy |
|
|
|
|
30 / 7739
|