|
1
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
2
|
(HPO:0000275)
|
Narrow face |
|
|
|
|
76 / 7739
|
|
3
|
(HPO:0000278)
|
Retrognathia |
|
|
|
|
100 / 7739
|
|
4
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
5
|
(HPO:0001045)
|
Vitiligo |
|
|
|
|
13 / 7739
|
|
6
|
(HPO:0001258)
|
Spastic paraplegia |
|
|
|
|
97 / 7739
|
|
7
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
|
8
|
(HPO:0003487)
|
Babinski sign |
|
|
|
|
179 / 7739
|
|
9
|
(HPO:0004771)
|
Premature graying of body hair |
|
|
|
|
1 / 7739
|
|
10
|
(HPO:0005586)
|
Hyperpigmentation in sun-exposed areas |
|
|
|
|
2 / 7739
|
|
11
|
(HPO:0007340)
|
Lower limb muscle weakness |
|
|
|
|
61 / 7739
|
|
12
|
(HPO:0009830)
|
Peripheral neuropathy |
Rare [HPO]
|
|
|
|
206 / 7739
|
|
13
|
(HPO:0100543)
|
Cognitive impairment |
|
|
|
|
230 / 7739
|
|
14
|
(OMIM)
|
Patchy vitiligo |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Lentigenes |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Spastic paraplegia, severe |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Cognitive impairment, mild |
|
|
|
|
15 / 7739
|
|
18
|
(OMIM)
|
Peripheral neuropathy, mild, in some |
|
|
|
|
1 / 7739
|