|
1
|
(HPO:0001513)
|
Obesity |
Very frequent [Orphanet]
|
|
|
|
172 / 7739
|
|
2
|
(HPO:0009830)
|
Peripheral neuropathy |
Occasional [Orphanet]
|
|
|
|
206 / 7739
|
|
3
|
(HPO:0200042)
|
Skin ulcer |
Occasional [Orphanet]
|
|
|
|
138 / 7739
|
|
4
|
(HPO:0100585)
|
Telangiectasia of the skin |
Occasional [Orphanet]
|
|
|
|
66 / 7739
|
|
5
|
(HPO:0001097)
|
Keratoconjunctivitis sicca |
Occasional [Orphanet]
|
|
|
|
25 / 7739
|
|
6
|
(HPO:0000978)
|
Bruising susceptibility |
Occasional [Orphanet]
|
|
|
|
123 / 7739
|
|
7
|
(HPO:0005059)
|
Arthralgia/arthritis |
Very frequent [Orphanet]
|
|
|
|
141 / 7739
|
|
8
|
(HPO:0100769)
|
Synovitis |
Occasional [Orphanet]
|
|
|
|
86 / 7739
|
|
9
|
(HPO:0002315)
|
Headache |
Occasional [Orphanet]
|
|
|
|
175 / 7739
|
|
10
|
(HPO:0002960)
|
Autoimmunity |
Occasional [Orphanet]
|
|
|
|
78 / 7739
|
|
11
|
(HPO:0000708)
|
Behavioral abnormality |
Very frequent [Orphanet]
|
|
|
|
212 / 7739
|
|
12
|
(HPO:0002225)
|
Sparse pubic hair |
Frequent [Orphanet]
|
|
|
|
76 / 7739
|
|
13
|
(HPO:0002014)
|
Diarrhea |
Occasional [Orphanet]
|
|
|
|
225 / 7739
|
|
14
|
(HPO:0002354)
|
Memory impairment |
Occasional [Orphanet]
|
|
|
|
63 / 7739
|
|
15
|
(HPO:0000821)
|
Hypothyroidism |
Occasional [Orphanet]
|
|
|
|
141 / 7739
|
|
16
|
(HPO:0000217)
|
Xerostomia |
Occasional [Orphanet]
|
|
|
|
35 / 7739
|
|
17
|
(HPO:0001250)
|
Seizures |
Occasional [Orphanet]
|
|
|
|
1245 / 7739
|
|
18
|
(HPO:0002360)
|
Sleep disturbance |
Occasional [Orphanet]
|
|
|
|
113 / 7739
|
|
19
|
(HPO:0002019)
|
Constipation |
Occasional [Orphanet]
|
|
|
|
194 / 7739
|
|
20
|
(HPO:0000958)
|
Dry skin |
Occasional [Orphanet]
|
|
|
|
152 / 7739
|
|
21
|
(HPO:0007596)
|
Painful subcutaneous lipomas |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Painful trunk and limb subcutaneous lipomas |
|
|
|
|
1 / 7739
|
|
23
|
(HPO:0000142)
|
Abnormality of the vagina |
Occasional [Orphanet]
|
|
|
|
24 / 7739
|
|
24
|
(HPO:0001031)
|
Subcutaneous lipoma |
Very frequent [Orphanet]
|
|
|
|
112 / 7739
|
|
25
|
(HPO:0100851)
|
Abnormal emotion/affect behavior |
Very frequent [Orphanet]
|
|
|
|
85 / 7739
|
|
26
|
(HPO:0100543)
|
Cognitive impairment |
Occasional [Orphanet]
|
|
|
|
230 / 7739
|
|
27
|
(HPO:0000763)
|
Sensory neuropathy |
Occasional [Orphanet]
|
|
|
|
78 / 7739
|
|
28
|
(HPO:0001324)
|
Muscle weakness |
Very frequent [Orphanet]
|
|
|
|
859 / 7739
|
|
29
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
30
|
(HPO:0000739)
|
Anxiety |
|
|
|
|
67 / 7739
|
|
31
|
(HPO:0002829)
|
Arthralgia |
|
|
|
|
79 / 7739
|
|
32
|
(HPO:0003596)
|
Middle age onset |
|
|
|
|
5 / 7739
|
|
33
|
(HPO:0012378)
|
Fatigue |
|
|
|
|
50 / 7739
|
|
34
|
(HPO:0012532)
|
Chronic pain |
|
|
|
|
3 / 7739
|