|
1
|
(HPO:0000501)
|
Glaucoma |
Frequent [Orphanet]
|
|
|
|
180 / 7739
|
|
2
|
(HPO:0000592)
|
Blue sclerae |
Occasional [Orphanet]
|
|
|
|
85 / 7739
|
|
3
|
(HPO:0001053)
|
Hypopigmented skin patches |
Very frequent [Orphanet]
|
|
|
|
80 / 7739
|
|
4
|
(HPO:0001250)
|
Seizures |
Frequent [Orphanet]
|
|
|
|
1245 / 7739
|
|
5
|
(HPO:0002120)
|
Cerebral cortical atrophy |
Very frequent [Orphanet]
|
|
|
|
187 / 7739
|
|
6
|
(HPO:0002353)
|
EEG abnormality |
Frequent [Orphanet]
|
|
|
|
188 / 7739
|
|
7
|
(HPO:0002514)
|
Cerebral calcification |
Frequent [Orphanet]
|
|
|
|
89 / 7739
|
|
8
|
(HPO:0004349)
|
Reduced bone mineral density |
Very frequent [Orphanet]
|
|
|
|
165 / 7739
|
|
9
|
(HPO:0000953)
|
Hyperpigmentation of the skin |
Very frequent [Orphanet]
|
|
|
|
75 / 7739
|
|
10
|
(HPO:0100026)
|
Arteriovenous malformation |
Very frequent [Orphanet]
|
|
|
|
38 / 7739
|
|
11
|
(HPO:0011524)
|
Iris melanoma |
Very frequent [Orphanet]
|
|
|
|
1 / 7739
|
|
12
|
(HPO:0001052)
|
Nevus flammeus |
Very frequent [Orphanet]
|
|
|
|
88 / 7739
|
|
13
|
(HPO:0011331)
|
Hemifacial atrophy |
Occasional [Orphanet]
|
|
|
|
79 / 7739
|
|
14
|
(HPO:0000763)
|
Sensory neuropathy |
Very frequent [Orphanet]
|
|
|
|
78 / 7739
|
|
15
|
(HPO:0012758)
|
Neurodevelopmental delay |
Frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
16
|
(HPO:0030350)
|
Erythematous papule |
Very frequent [Orphanet]
|
|
|
|
123 / 7739
|