|
1
|
(HPO:0001387)
|
Joint stiffness |
Frequent [Orphanet]
|
|
|
|
322 / 7739
|
|
2
|
(HPO:0003477)
|
Peripheral axonal neuropathy |
|
|
|
|
62 / 7739
|
|
3
|
(HPO:0007178)
|
Motor polyneuropathy |
|
|
|
|
31 / 7739
|
|
4
|
(HPO:0009830)
|
Peripheral neuropathy |
Frequent [Orphanet]
|
|
|
|
206 / 7739
|
|
5
|
(HPO:0003202)
|
Skeletal muscle atrophy |
Frequent [Orphanet]
|
|
|
|
281 / 7739
|
|
6
|
(HPO:0000572)
|
Visual loss |
Occasional [Orphanet]
|
|
|
|
272 / 7739
|
|
7
|
(HPO:0008207)
|
Primary adrenal insufficiency |
Occasional [Orphanet]
|
|
|
|
26 / 7739
|
|
8
|
(HPO:0000820)
|
Abnormality of the thyroid gland |
Occasional [Orphanet]
|
|
|
|
19 / 7739
|
|
9
|
(HPO:0200042)
|
Skin ulcer |
Frequent [Orphanet]
|
|
|
|
138 / 7739
|
|
10
|
(HPO:0000505)
|
Visual impairment |
Very frequent [Orphanet]
|
|
|
|
297 / 7739
|
|
11
|
(HPO:0000545)
|
Myopia |
Very frequent [Orphanet]
|
|
|
|
286 / 7739
|
|
12
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
13
|
(HPO:0002066)
|
Gait ataxia |
Frequent [Orphanet]
|
|
|
|
327 / 7739
|
|
14
|
(HPO:0002621)
|
Atherosclerosis |
Frequent [Orphanet]
|
|
|
|
33 / 7739
|
|
15
|
(HPO:0002353)
|
EEG abnormality |
Frequent [Orphanet]
|
|
|
|
188 / 7739
|
|
16
|
(HPO:0000726)
|
Dementia |
|
|
|
|
131 / 7739
|
|
17
|
(HPO:0005978)
|
Type II diabetes mellitus |
Occasional [Orphanet]
|
|
|
|
68 / 7739
|
|
18
|
(HPO:0007021)
|
Pain insensitivity |
Frequent [Orphanet]
|
|
|
|
35 / 7739
|
|
19
|
(HPO:0004326)
|
Cachexia |
Frequent [Orphanet]
|
|
|
|
71 / 7739
|
|
20
|
(HPO:0002650)
|
Scoliosis |
Frequent [Orphanet]
|
|
|
|
705 / 7739
|
|
21
|
(HPO:0002120)
|
Cerebral cortical atrophy |
Occasional [Orphanet]
|
|
|
|
187 / 7739
|
|
22
|
(HPO:0000670)
|
Carious teeth |
Frequent [Orphanet]
|
|
|
|
145 / 7739
|
|
23
|
(HPO:0000518)
|
Cataract |
Frequent [Orphanet]
|
|
|
|
454 / 7739
|
|
24
|
(HPO:0002808)
|
Kyphosis |
Frequent [Orphanet]
|
|
|
|
289 / 7739
|
|
25
|
(HPO:0001250)
|
Seizures |
Frequent [Orphanet]
|
|
|
|
1245 / 7739
|
|
26
|
(HPO:0001006)
|
Hypotrichosis |
Frequent [Orphanet]
|
|
|
|
219 / 7739
|
|
27
|
(HPO:0004528)
|
Generalized hypotrichosis |
|
|
|
|
18 / 7739
|
|
28
|
(HPO:0004334)
|
Dermal atrophy |
|
|
|
|
34 / 7739
|
|
29
|
(HPO:0012062)
|
Bone cyst |
Frequent [Orphanet]
|
|
|
|
19 / 7739
|
|
30
|
(HPO:0002514)
|
Cerebral calcification |
Occasional [Orphanet]
|
|
|
|
89 / 7739
|
|
31
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Very frequent [Orphanet]
|
|
|
|
524 / 7739
|
|
32
|
(HPO:0100022)
|
Abnormality of movement |
Occasional [Orphanet]
|
|
|
|
129 / 7739
|
|
33
|
(HPO:0002381)
|
Aphasia |
|
|
|
|
27 / 7739
|
|
34
|
(HPO:0000510)
|
Rod-cone dystrophy |
Frequent [Orphanet]
|
|
|
|
266 / 7739
|
|
35
|
(HPO:0000408)
|
Progressive sensorineural hearing impairment |
|
|
|
|
28 / 7739
|
|
36
|
(HPO:0000939)
|
Osteoporosis |
|
|
|
|
129 / 7739
|
|
37
|
(HPO:0000962)
|
Hyperkeratosis |
|
|
|
|
216 / 7739
|
|
38
|
(HPO:0001596)
|
Alopecia |
|
|
|
|
162 / 7739
|
|
39
|
(HPO:0002289)
|
Alopecia universalis |
|
|
|
|
20 / 7739
|
|
40
|
(HPO:0002167)
|
Neurological speech impairment |
Frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
41
|
(HPO:0002751)
|
Kyphoscoliosis |
|
|
|
|
131 / 7739
|
|
42
|
(HPO:0002922)
|
Increased CSF protein |
|
|
|
|
27 / 7739
|
|
43
|
(HPO:0005700)
|
Increased bone density with cystic changes |
|
|
|
|
1 / 7739
|
|
44
|
(HPO:0008065)
|
Aplasia/Hypoplasia of the skin |
Very frequent [Orphanet]
|
|
|
|
81 / 7739
|
|
45
|
(OMIM)
|
Dental caries, severe |
|
|
|
|
5 / 7739
|
|
46
|
(OMIM)
|
Atypical retinitis pigmentosa |
|
|
|
|
3 / 7739
|
|
47
|
(OMIM)
|
Chronic ulceration |
|
|
|
|
1 / 7739
|
|
48
|
(HPO:0100543)
|
Cognitive impairment |
Frequent [Orphanet]
|
|
|
|
230 / 7739
|
|
49
|
(HPO:0000164)
|
Abnormality of the teeth |
Occasional [Orphanet]
|
|
|
|
291 / 7739
|
|
50
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|