|
1
|
(HPO:0000957)
|
Cafe-au-lait spot |
|
|
|
|
84 / 7739
|
|
2
|
(HPO:0001480)
|
Freckling |
|
|
|
|
13 / 7739
|
|
3
|
(HPO:0002385)
|
Paraparesis |
|
|
|
|
12 / 7739
|
|
4
|
(HPO:0006851)
|
Symmetric spinal nerve root neurofibromas |
|
|
|
|
1 / 7739
|
|
5
|
(HPO:0007340)
|
Lower limb muscle weakness |
|
|
|
|
61 / 7739
|
|
6
|
(HPO:0009737)
|
Lisch nodules |
|
|
|
|
10 / 7739
|
|
7
|
(HPO:0010302)
|
Spinal cord tumor |
obligate [HPO:skoehler]
|
|
|
|
5 / 7739
|
|
8
|
(OMIM)
|
Lisch nodules (iris hamartomas) may or may not be present |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Neurofibromas may or may not be present |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Cafe-au-lait spots may or may not be present |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Freckling may or may not be present |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Neurofibromas can occur at cervical, thoracic, lumbar, and sacral levels |
|
|
|
|
1 / 7739
|
|
13
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|