1
|
(HPO:0002334)
|
Abnormality of the cerebellar vermis |
Occasional [Orphanet]
|
|
|
|
137 / 7739
|
2
|
(HPO:0002664)
|
Neoplasm |
Occasional [Orphanet]
|
|
|
|
111 / 7739
|
3
|
(HPO:0002435)
|
Meningocele |
Occasional [Orphanet]
|
|
|
|
23 / 7739
|
4
|
(HPO:0002383)
|
Encephalitis |
Occasional [Orphanet]
|
|
|
|
41 / 7739
|
5
|
(HPO:0001305)
|
Dandy-Walker malformation |
Occasional [Orphanet]
rare [HPO:skoehler]
|
|
|
|
79 / 7739
|
6
|
(HPO:0000708)
|
Behavioral abnormality |
Occasional [Orphanet]
|
|
|
|
212 / 7739
|
7
|
(HPO:0002353)
|
EEG abnormality |
Occasional [Orphanet]
|
|
|
|
188 / 7739
|
8
|
(HPO:0002861)
|
Melanoma |
Occasional [Orphanet]
|
|
|
|
18 / 7739
|
9
|
(HPO:0006824)
|
Cranial nerve paralysis |
Occasional [Orphanet]
|
|
|
|
81 / 7739
|
10
|
(HPO:0002536)
|
Abnormal cortical gyration |
Occasional [Orphanet]
|
|
|
|
72 / 7739
|
11
|
(HPO:0002308)
|
Arnold-Chiari malformation |
Occasional [Orphanet]
|
|
|
|
42 / 7739
|
12
|
(HPO:0003396)
|
Syringomyelia |
Occasional [Orphanet]
rare [HPO:skoehler]
|
|
|
|
16 / 7739
|
13
|
(HPO:0001072)
|
Thickened skin |
Very frequent [Orphanet]
|
|
|
|
87 / 7739
|
14
|
(HPO:0004374)
|
Hemiplegia/hemiparesis |
Occasional [Orphanet]
|
|
|
|
158 / 7739
|
15
|
(HPO:0001250)
|
Seizures |
Very frequent [Orphanet]
|
|
|
|
1245 / 7739
|
16
|
(HPO:0000995)
|
Melanocytic nevus |
Very frequent [Orphanet]
|
|
|
|
63 / 7739
|
17
|
(HPO:0004936)
|
Venous thrombosis |
Occasional [Orphanet]
|
|
|
|
41 / 7739
|
18
|
(HPO:0000953)
|
Hyperpigmentation of the skin |
Very frequent [Orphanet]
|
|
|
|
75 / 7739
|
19
|
(HPO:0002170)
|
Intracranial hemorrhage |
Occasional [Orphanet]
|
|
|
|
40 / 7739
|
20
|
(HPO:0000510)
|
Rod-cone dystrophy |
Occasional [Orphanet]
|
|
|
|
266 / 7739
|
21
|
(HPO:0002119)
|
Ventriculomegaly |
Occasional [Orphanet]
|
|
|
|
253 / 7739
|
22
|
(HPO:0001268)
|
Mental deterioration |
|
|
|
|
88 / 7739
|
23
|
(HPO:0005603)
|
Numerous congenital melanocytic nevi |
|
|
|
|
1 / 7739
|
24
|
(HPO:0008678)
|
Renal hypoplasia/aplasia |
Occasional [Orphanet]
|
|
|
|
127 / 7739
|
25
|
(OMIM)
|
Giant pigmented nevi, often in lumbosacral distribution |
|
|
|
|
1 / 7739
|
26
|
(OMIM)
|
Melanosis of pia-arachnoid |
|
|
|
|
1 / 7739
|
27
|
(OMIM)
|
Leptomeningeal melanoma |
|
|
|
|
1 / 7739
|
28
|
(HPO:0001522)
|
Death in infancy |
Occasional [Orphanet]
|
|
|
|
275 / 7739
|
29
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
30
|
(HPO:0000479)
|
Abnormality of the retina |
Occasional [Orphanet]
|
|
|
|
74 / 7739
|
31
|
(HPO:0011362)
|
Abnormal hair quantity |
Very frequent [Orphanet]
|
|
|
|
92 / 7739
|
32
|
(HPO:0001965)
|
Abnormality of the scalp |
Very frequent [Orphanet]
|
|
|
|
10 / 7739
|
33
|
(HPO:0000238)
|
Hydrocephalus |
rare [HPO:skoehler]
|
|
|
|
278 / 7739
|
34
|
(HPO:0001263)
|
Global developmental delay |
rare [HPO:skoehler]
|
|
|
|
853 / 7739
|
35
|
(HPO:0002858)
|
Meningioma |
rare [HPO:skoehler]
|
|
|
|
22 / 7739
|
36
|
(HPO:0003745)
|
Sporadic |
|
|
|
|
131 / 7739
|
37
|
(HPO:0100702)
|
Arachnoid cyst |
rare [HPO:skoehler]
|
|
|
|
15 / 7739
|
38
|
(HPO:0200022)
|
Choroid plexus papilloma |
rare [HPO:skoehler]
|
|
|
|
2 / 7739
|