|
1
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
2
|
(HPO:0000522)
|
Alacrima |
|
|
|
|
14 / 7739
|
|
3
|
(HPO:0000648)
|
Optic atrophy |
|
|
|
|
238 / 7739
|
|
4
|
(HPO:0000649)
|
Abnormality of visual evoked potentials |
|
|
|
|
34 / 7739
|
|
5
|
(HPO:0000972)
|
Palmoplantar hyperkeratosis |
|
|
|
|
41 / 7739
|
|
6
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
7
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
8
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
9
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
10
|
(HPO:0001278)
|
Orthostatic hypotension |
|
|
|
|
24 / 7739
|
|
11
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
12
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
|
13
|
(HPO:0002459)
|
Dysautonomia |
|
|
|
|
34 / 7739
|
|
14
|
(HPO:0002571)
|
Achalasia |
|
|
|
|
19 / 7739
|
|
15
|
(HPO:0003487)
|
Babinski sign |
|
|
|
|
179 / 7739
|
|
16
|
(HPO:0004319)
|
Hypoaldosteronism |
|
|
|
|
9 / 7739
|
|
17
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
18
|
(HPO:0007002)
|
Motor axonal neuropathy |
|
|
|
|
17 / 7739
|
|
19
|
(HPO:0008220)
|
Hypocortisolemia |
|
|
|
|
6 / 7739
|
|
20
|
(HPO:0008259)
|
Adrenocorticotropin receptor defect |
|
|
|
|
2 / 7739
|
|
21
|
(HPO:0009916)
|
Anisocoria |
|
|
|
|
11 / 7739
|
|
22
|
(OMIM)
|
Anisocoria due to autonomic dysfunction |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Abnormal cardiovascular reflexes due to autonomic dysfunction |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
Hyperpigmentation |
|
|
|
|
24 / 7739
|
|
25
|
(OMIM)
|
Abnormal sweating due to autonomic dysfunction |
|
|
|
|
1 / 7739
|
|
26
|
(OMIM)
|
Distal muscle weakness and atrophy |
|
|
|
|
3 / 7739
|
|
27
|
(OMIM)
|
Abnormal sweating |
|
|
|
|
2 / 7739
|
|
28
|
(OMIM)
|
Schirmer test shows alacrima |
|
|
|
|
1 / 7739
|