1
|
(HPO:0009830)
|
Peripheral neuropathy |
Frequent [Orphanet]
|
|
|
|
206 / 7739
|
2
|
(HPO:0002334)
|
Abnormality of the cerebellar vermis |
Frequent [Orphanet]
|
|
|
|
137 / 7739
|
3
|
(HPO:0002607)
|
Bowel incontinence |
Occasional [Orphanet]
|
|
|
|
33 / 7739
|
4
|
(HPO:0003326)
|
Myalgia |
Occasional [Orphanet]
|
|
|
|
143 / 7739
|
5
|
(HPO:0002363)
|
Abnormality of brainstem morphology |
Occasional [Orphanet]
|
|
|
|
14 / 7739
|
6
|
(HPO:0000716)
|
Depression |
|
|
|
|
99 / 7739
|
7
|
(HPO:0000739)
|
Anxiety |
|
|
|
|
67 / 7739
|
8
|
(HPO:0002615)
|
Hypotension |
Occasional [Orphanet]
|
|
|
|
52 / 7739
|
9
|
(HPO:0001276)
|
Hypertonia |
Frequent [Orphanet]
|
|
|
|
317 / 7739
|
10
|
(HPO:0001265)
|
Hyporeflexia |
|
|
|
|
208 / 7739
|
11
|
(HPO:0001315)
|
Reduced tendon reflexes |
Frequent [Orphanet]
|
|
|
|
160 / 7739
|
12
|
(HPO:0001324)
|
Muscle weakness |
Frequent [Orphanet]
|
|
|
|
859 / 7739
|
13
|
(HPO:0002066)
|
Gait ataxia |
Very frequent [Orphanet]
|
|
|
|
327 / 7739
|
14
|
(HPO:0000726)
|
Dementia |
|
|
|
|
131 / 7739
|
15
|
(HPO:0001268)
|
Mental deterioration |
|
|
|
|
88 / 7739
|
16
|
(HPO:0002120)
|
Cerebral cortical atrophy |
Very frequent [Orphanet]
|
|
|
|
187 / 7739
|
17
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
18
|
(HPO:0002354)
|
Memory impairment |
Very frequent [Orphanet]
|
|
|
|
63 / 7739
|
19
|
(HPO:0002270)
|
Abnormality of the autonomic nervous system |
Frequent [Orphanet]
|
|
|
|
22 / 7739
|
20
|
(HPO:0000722)
|
Obsessive-compulsive behavior |
Frequent [Orphanet]
|
|
|
|
35 / 7739
|
21
|
(HPO:0008770)
|
Obsessive-compulsive trait |
|
|
|
|
6 / 7739
|
22
|
(HPO:0000821)
|
Hypothyroidism |
Occasional [Orphanet]
|
|
|
|
141 / 7739
|
23
|
(HPO:0000822)
|
Hypertension |
Occasional [Orphanet]
|
|
|
|
224 / 7739
|
24
|
(HPO:0001337)
|
Tremor |
Very frequent [Orphanet]
|
|
|
|
200 / 7739
|
25
|
(HPO:0001288)
|
Gait disturbance |
Very frequent [Orphanet]
|
|
|
|
318 / 7739
|
26
|
(HPO:0002015)
|
Dysphagia |
Occasional [Orphanet]
|
|
|
|
301 / 7739
|
27
|
(HPO:0000802)
|
Impotence |
|
|
|
|
20 / 7739
|
28
|
(HPO:0100639)
|
Erectile abnormalities |
Frequent [Orphanet]
|
|
|
|
15 / 7739
|
29
|
(HPO:0001310)
|
Dysmetria |
|
|
|
|
76 / 7739
|
30
|
(HPO:0002067)
|
Bradykinesia |
|
|
|
|
62 / 7739
|
31
|
(HPO:0000020)
|
Urinary incontinence |
|
|
|
|
75 / 7739
|
32
|
(HPO:0000298)
|
Mask-like facies |
|
|
|
|
44 / 7739
|
33
|
(HPO:0000365)
|
Hearing impairment |
|
|
|
|
539 / 7739
|
34
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
35
|
(HPO:0000734)
|
Disinhibition |
|
|
|
|
13 / 7739
|
36
|
(HPO:0001152)
|
Saccadic smooth pursuit |
|
|
|
|
6 / 7739
|
37
|
(HPO:0001272)
|
Cerebellar atrophy |
|
|
|
|
197 / 7739
|
38
|
(HPO:0001300)
|
Parkinsonism |
|
|
|
|
75 / 7739
|
39
|
(HPO:0002075)
|
Dysdiadochokinesis |
|
|
|
|
40 / 7739
|
40
|
(HPO:0002080)
|
Intention tremor |
|
|
|
|
44 / 7739
|
41
|
(HPO:0002174)
|
Postural tremor |
|
|
|
|
22 / 7739
|
42
|
(HPO:0002322)
|
Resting tremor |
|
|
|
|
14 / 7739
|
43
|
(HPO:0002345)
|
Action tremor |
|
|
|
|
11 / 7739
|
44
|
(HPO:0002506)
|
Diffuse cerebral atrophy |
|
|
|
|
9 / 7739
|
45
|
(HPO:0006886)
|
Impaired distal vibration sensation |
|
|
|
|
8 / 7739
|
46
|
(HPO:0007010)
|
Poor fine motor coordination |
|
|
|
|
4 / 7739
|
47
|
(HPO:0008209)
|
Premature ovarian failure |
|
|
|
|
28 / 7739
|
48
|
(MedDRA:10026863)
|
Masked facies |
|
|
|
|
8 / 7739
|
49
|
(OMIM)
|
Saccadic pursuit |
|
|
|
|
7 / 7739
|
50
|
(MedDRA:10021639)
|
Incontinence |
|
|
|
|
11 / 7739
|
51
|
(MedDRA:10048439)
|
Fibromyalgia |
|
|
|
|
1 / 7739
|
52
|
(OMIM)
|
Impaired tandem gait |
|
|
|
|
1 / 7739
|
53
|
(OMIM)
|
Impaired fine motor skills |
|
|
|
|
2 / 7739
|
54
|
(OMIM)
|
Illegible handwriting |
|
|
|
|
1 / 7739
|
55
|
(OMIM)
|
Loss of executive function |
|
|
|
|
2 / 7739
|
56
|
(OMIM)
|
Memory defects |
|
|
|
|
1 / 7739
|
57
|
(OMIM)
|
MRI shows generalized atrophy |
|
|
|
|
1 / 7739
|
58
|
(OMIM)
|
Increased T2 signal intensities in the middle cerebellar peduncles |
|
|
|
|
1 / 7739
|
59
|
(OMIM)
|
Neuropathology shows FMR1 mRNA-positive inclusions in neurons and astrocytes |
|
|
|
|
1 / 7739
|
60
|
(OMIM)
|
Decreased distal vibratory sensation |
|
|
|
|
1 / 7739
|
61
|
(OMIM)
|
Lower extremity numbness |
|
|
|
|
1 / 7739
|
62
|
(OMIM)
|
Lower extremity paresthesias |
|
|
|
|
1 / 7739
|
63
|
(MedDRA:10070246)
|
Executive dysfunction |
|
|
|
|
6 / 7739
|
64
|
(OMIM)
|
Increased intracellular FMRP mRNA |
|
|
|
|
1 / 7739
|
65
|
(OMIM)
|
Decreased intracellular FMR protein |
|
|
|
|
1 / 7739
|
66
|
(HPO:0002839)
|
Urinary bladder sphincter dysfunction |
Frequent [Orphanet]
|
|
|
|
34 / 7739
|
67
|
(HPO:0002167)
|
Neurological speech impairment |
Very frequent [Orphanet]
|
|
|
|
308 / 7739
|
68
|
(HPO:0100022)
|
Abnormality of movement |
Very frequent [Orphanet]
|
|
|
|
129 / 7739
|
69
|
(HPO:0011037)
|
Decreased urine output |
Frequent [Orphanet]
|
|
|
|
47 / 7739
|
70
|
(HPO:0003220)
|
Abnormality of chromosome stability |
Very frequent [Orphanet]
|
|
|
|
98 / 7739
|
71
|
(HPO:0100851)
|
Abnormal emotion/affect behavior |
Frequent [Orphanet]
|
|
|
|
85 / 7739
|
72
|
(HPO:0000763)
|
Sensory neuropathy |
Frequent [Orphanet]
|
|
|
|
78 / 7739
|
73
|
(HPO:0100543)
|
Cognitive impairment |
Very frequent [Orphanet]
|
|
|
|
230 / 7739
|
74
|
(HPO:0001423)
|
X-linked dominant inheritance |
|
|
|
|
69 / 7739
|
75
|
(HPO:0003581)
|
Adult onset |
|
|
|
|
117 / 7739
|