|
1
|
(HPO:0003202)
|
Skeletal muscle atrophy |
Frequent [Orphanet]
|
|
|
|
281 / 7739
|
|
2
|
(HPO:0002334)
|
Abnormality of the cerebellar vermis |
Very frequent [Orphanet]
|
|
|
|
137 / 7739
|
|
3
|
(HPO:0002149)
|
Hyperuricemia |
Very frequent [Orphanet]
|
|
|
|
37 / 7739
|
|
4
|
(HPO:0000820)
|
Abnormality of the thyroid gland |
Very frequent [Orphanet]
|
|
|
|
19 / 7739
|
|
5
|
(HPO:0001903)
|
Anemia |
Very frequent [Orphanet]
|
|
|
|
289 / 7739
|
|
6
|
(HPO:0004374)
|
Hemiplegia/hemiparesis |
Frequent [Orphanet]
|
|
|
|
158 / 7739
|
|
7
|
(HPO:0001250)
|
Seizures |
Very frequent [Orphanet]
|
|
|
|
1245 / 7739
|
|
8
|
(HPO:0000083)
|
Renal insufficiency |
Very frequent [Orphanet]
|
|
|
|
232 / 7739
|
|
9
|
(HPO:0000124)
|
Renal tubular dysfunction |
Very frequent [Orphanet]
|
|
|
|
46 / 7739
|
|
10
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
11
|
(HPO:0002066)
|
Gait ataxia |
Very frequent [Orphanet]
|
|
|
|
327 / 7739
|
|
12
|
(HPO:0001873)
|
Thrombocytopenia |
Very frequent [Orphanet]
|
|
|
|
224 / 7739
|
|
13
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Frequent [Orphanet]
|
|
|
|
524 / 7739
|
|
14
|
(HPO:0002353)
|
EEG abnormality |
Very frequent [Orphanet]
|
|
|
|
188 / 7739
|
|
15
|
(HPO:0000123)
|
Nephritis |
|
|
|
|
18 / 7739
|
|
16
|
(HPO:0000853)
|
Goiter |
|
|
|
|
39 / 7739
|
|
17
|
(HPO:0001336)
|
Myoclonus |
|
|
|
|
115 / 7739
|
|
18
|
(HPO:0001350)
|
Slurred speech |
|
|
|
|
16 / 7739
|
|
19
|
(OMIM)
|
Chronic renal disease |
|
|
|
|
2 / 7739
|
|
20
|
(OMIM)
|
Normal mentality |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Simple colloid goiter |
|
|
|
|
1 / 7739
|
|
22
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|