1
|
(HPO:0000708)
|
Behavioral abnormality |
Very frequent [Orphanet]
|
|
|
|
212 / 7739
|
2
|
(HPO:0000787)
|
Nephrolithiasis |
Frequent [Orphanet]
|
|
|
|
78 / 7739
|
3
|
(HPO:0000958)
|
Dry skin |
Frequent [Orphanet]
|
|
|
|
152 / 7739
|
4
|
(HPO:0000964)
|
Eczema |
Occasional [Orphanet]
|
|
|
|
81 / 7739
|
5
|
(HPO:0001231)
|
Abnormality of the fingernails |
Frequent [Orphanet]
|
|
|
|
116 / 7739
|
6
|
(HPO:0001596)
|
Alopecia |
Frequent [Orphanet]
|
|
|
|
162 / 7739
|
7
|
(HPO:0001635)
|
Congestive heart failure |
Occasional [Orphanet]
|
|
|
|
232 / 7739
|
8
|
(HPO:0002027)
|
Abdominal pain |
Frequent [Orphanet]
|
|
|
|
184 / 7739
|
9
|
(HPO:0002150)
|
Hypercalciuria |
Very frequent [Orphanet]
|
|
|
|
45 / 7739
|
10
|
(HPO:0002516)
|
Increased intracranial pressure |
Occasional [Orphanet]
|
|
|
|
47 / 7739
|
11
|
(HPO:0002615)
|
Hypotension |
Frequent [Orphanet]
|
|
|
|
52 / 7739
|
12
|
(HPO:0002793)
|
Abnormal pattern of respiration |
Frequent [Orphanet]
|
|
|
|
26 / 7739
|
13
|
(HPO:0002901)
|
Hypocalcemia |
Very frequent [Orphanet]
|
|
|
|
56 / 7739
|
14
|
(HPO:0002905)
|
Hyperphosphatemia |
Frequent [Orphanet]
|
|
|
|
18 / 7739
|
15
|
(HPO:0003457)
|
EMG abnormality |
Very frequent [Orphanet]
|
|
|
|
78 / 7739
|
16
|
(HPO:0004305)
|
Involuntary movements |
Very frequent [Orphanet]
|
|
|
|
50 / 7739
|
17
|
(HPO:0004349)
|
Reduced bone mineral density |
Occasional [Orphanet]
|
|
|
|
165 / 7739
|
18
|
(HPO:0004372)
|
Reduced consciousness/confusion |
Occasional [Orphanet]
|
|
|
|
73 / 7739
|
19
|
(HPO:0007400)
|
Irregular hyperpigmentation |
Occasional [Orphanet]
|
|
|
|
72 / 7739
|
20
|
(HPO:0011675)
|
Arrhythmia |
Frequent [Orphanet]
|
|
|
|
226 / 7739
|
21
|
(HPO:0003394)
|
Muscle cramps |
Very frequent [Orphanet]
|
|
|
|
106 / 7739
|
22
|
(HPO:0001597)
|
Abnormality of the nail |
Frequent [Orphanet]
|
|
|
|
115 / 7739
|
23
|
(HPO:0100851)
|
Abnormal emotion/affect behavior |
Very frequent [Orphanet]
|
|
|
|
85 / 7739
|
24
|
(HPO:0000763)
|
Sensory neuropathy |
Very frequent [Orphanet]
|
|
|
|
78 / 7739
|
25
|
(HPO:0001324)
|
Muscle weakness |
Very frequent [Orphanet]
|
|
|
|
859 / 7739
|
26
|
(HPO:0012795)
|
Abnormality of the optic disc |
Occasional [Orphanet]
|
|
|
|
187 / 7739
|