|
1
|
(HPO:0000252)
|
Microcephaly |
Occasional [Orphanet]
|
|
|
|
832 / 7739
|
|
2
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Occasional [Orphanet]
|
|
|
|
524 / 7739
|
|
3
|
(HPO:0000505)
|
Visual impairment |
Frequent [Orphanet]
|
|
|
|
297 / 7739
|
|
4
|
(HPO:0000612)
|
Iris coloboma |
Occasional [Orphanet]
|
|
|
|
116 / 7739
|
|
5
|
(HPO:0000972)
|
Palmoplantar hyperkeratosis |
|
|
|
|
41 / 7739
|
|
6
|
(HPO:0001250)
|
Seizures |
Very frequent [Orphanet]
|
|
|
|
1245 / 7739
|
|
7
|
(HPO:0001252)
|
Muscular hypotonia |
Occasional [Orphanet]
|
|
|
|
990 / 7739
|
|
8
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
9
|
(HPO:0001347)
|
Hyperreflexia |
Occasional [Orphanet]
|
|
|
|
363 / 7739
|
|
10
|
(HPO:0002093)
|
Respiratory insufficiency |
Occasional [Orphanet]
|
|
|
|
410 / 7739
|
|
11
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
12
|
(HPO:0002066)
|
Gait ataxia |
Occasional [Orphanet]
|
|
|
|
327 / 7739
|
|
13
|
(HPO:0004322)
|
Short stature |
Frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
14
|
(HPO:0000953)
|
Hyperpigmentation of the skin |
Very frequent [Orphanet]
|
|
|
|
75 / 7739
|
|
15
|
(HPO:0008207)
|
Primary adrenal insufficiency |
Very frequent [Orphanet]
|
|
|
|
26 / 7739
|
|
16
|
(HPO:0002571)
|
Achalasia |
Very frequent [Orphanet]
|
|
|
|
19 / 7739
|
|
17
|
(HPO:0100543)
|
Cognitive impairment |
Occasional [Orphanet]
|
|
|
|
230 / 7739
|
|
18
|
(HPO:0000962)
|
Hyperkeratosis |
Frequent [Orphanet]
|
|
|
|
216 / 7739
|
|
19
|
(HPO:0012795)
|
Abnormality of the optic disc |
Occasional [Orphanet]
|
|
|
|
187 / 7739
|
|
20
|
(HPO:0040075)
|
Hypopituitarism |
Occasional [Orphanet]
|
|
|
|
32 / 7739
|
|
21
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
22
|
(HPO:0000522)
|
Alacrima |
|
|
|
|
14 / 7739
|
|
23
|
(HPO:0000648)
|
Optic atrophy |
|
|
|
|
238 / 7739
|
|
24
|
(HPO:0000649)
|
Abnormality of visual evoked potentials |
|
|
|
|
34 / 7739
|
|
25
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
26
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
27
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
28
|
(HPO:0001278)
|
Orthostatic hypotension |
|
|
|
|
24 / 7739
|
|
29
|
(HPO:0002459)
|
Dysautonomia |
|
|
|
|
34 / 7739
|
|
30
|
(HPO:0003487)
|
Babinski sign |
|
|
|
|
179 / 7739
|
|
31
|
(HPO:0003676)
|
Progressive disorder |
|
|
|
|
148 / 7739
|
|
32
|
(HPO:0004319)
|
Hypoaldosteronism |
|
|
|
|
9 / 7739
|
|
33
|
(HPO:0007002)
|
Motor axonal neuropathy |
|
|
|
|
17 / 7739
|
|
34
|
(HPO:0008220)
|
Hypocortisolemia |
|
|
|
|
6 / 7739
|
|
35
|
(HPO:0008259)
|
Adrenocorticotropin receptor defect |
|
|
|
|
2 / 7739
|
|
36
|
(HPO:0009916)
|
Anisocoria |
|
|
|
|
11 / 7739
|
|
37
|
(HPO:0011463)
|
Childhood onset |
|
|
|
|
65 / 7739
|