|
1
|
(HPO:0003079)
|
Defective DNA repair after ultraviolet radiation damage |
|
|
|
|
9 / 7739
|
|
2
|
(OMIM)
|
Mild cutaneous changes |
|
|
|
|
1 / 7739
|
|
3
|
(OMIM)
|
Abnormal sensitivity to UVB wavelengths by radiation monochromator skin testing |
|
|
|
|
1 / 7739
|
|
4
|
(OMIM)
|
No UV-induced skin tumors |
|
|
|
|
1 / 7739
|
|
5
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
6
|
(HPO:0000252)
|
Microcephaly |
rare [HPO:skoehler]
|
|
|
|
832 / 7739
|
|
7
|
(HPO:0000518)
|
Cataract |
rare [HPO:skoehler]
|
|
|
|
454 / 7739
|
|
8
|
(HPO:0000568)
|
Microphthalmia |
rare [HPO:skoehler]
|
|
|
|
183 / 7739
|
|
9
|
(HPO:0000992)
|
Cutaneous photosensitivity |
|
|
|
|
75 / 7739
|
|
10
|
(HPO:0001251)
|
Ataxia |
rare [HPO:skoehler]
|
|
|
|
413 / 7739
|
|
11
|
(HPO:0001257)
|
Spasticity |
rare [HPO:skoehler]
|
|
|
|
251 / 7739
|
|
12
|
(HPO:0001337)
|
Tremor |
rare [HPO:skoehler]
|
|
|
|
200 / 7739
|
|
13
|
(HPO:0001510)
|
Growth delay |
rare [HPO:skoehler]
|
|
|
|
295 / 7739
|
|
14
|
(HPO:0001761)
|
Pes cavus |
rare [HPO:skoehler]
|
|
|
|
225 / 7739
|