|
1
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
2
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
|
|
524 / 7739
|
|
3
|
(HPO:0000491)
|
Keratitis |
|
|
|
|
21 / 7739
|
|
4
|
(HPO:0000509)
|
Conjunctivitis |
|
|
|
|
47 / 7739
|
|
5
|
(HPO:0000613)
|
Photophobia |
|
|
|
|
158 / 7739
|
|
6
|
(HPO:0000621)
|
Entropion |
|
|
|
|
12 / 7739
|
|
7
|
(HPO:0000656)
|
Ectropion |
|
|
|
|
25 / 7739
|
|
8
|
(HPO:0000992)
|
Cutaneous photosensitivity |
|
|
|
|
75 / 7739
|
|
9
|
(HPO:0001009)
|
Telangiectasia |
|
|
|
|
46 / 7739
|
|
10
|
(HPO:0001029)
|
Poikiloderma |
|
|
|
|
23 / 7739
|
|
11
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
12
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
13
|
(HPO:0001257)
|
Spasticity |
|
|
|
|
251 / 7739
|
|
14
|
(HPO:0001265)
|
Hyporeflexia |
|
|
|
|
208 / 7739
|
|
15
|
(HPO:0001266)
|
Choreoathetosis |
|
|
|
|
57 / 7739
|
|
16
|
(HPO:0001268)
|
Mental deterioration |
|
|
|
|
88 / 7739
|
|
17
|
(HPO:0003079)
|
Defective DNA repair after ultraviolet radiation damage |
|
|
|
|
9 / 7739
|
|
18
|
(HPO:0004334)
|
Dermal atrophy |
|
|
|
|
34 / 7739
|
|
19
|
(OMIM)
|
Early onset skin cancer (basal cell, squamous cell and malignant melanoma) |
|
|
|
|
6 / 7739
|
|
20
|
(OMIM)
|
Early freckle-like lesions in exposed areas |
|
|
|
|
6 / 7739
|
|
21
|
(OMIM)
|
Increased/decreased skin pigment |
|
|
|
|
5 / 7739
|
|
22
|
(OMIM)
|
Actinic keratoses |
|
|
|
|
6 / 7739
|
|
23
|
(HPO:0001048)
|
Cavernous hemangioma |
|
|
|
|
28 / 7739
|
|
24
|
(MedDRA:10023347)
|
Keratoacanthoma |
|
|
|
|
6 / 7739
|