Symptom Information: Sort according to HPO 

1
 (HPO:0000252) Microcephaly 832 / 7739
2
 (HPO:0000365) Hearing impairment rare [HPO:skoehler] 539 / 7739
3
 (HPO:0000483) Astigmatism rare [HPO:skoehler] 67 / 7739
4
 (HPO:0000490) Deeply set eye rare [HPO:skoehler] 131 / 7739
5
 (HPO:0000639) Nystagmus rare [HPO:skoehler] 555 / 7739
6
 (HPO:0000726) Dementia rare [HPO:skoehler] 131 / 7739
7
 (HPO:0000992) Cutaneous photosensitivity 75 / 7739
8
 (HPO:0001249) Intellectual disability rare [HPO:skoehler] 1089 / 7739
9
 (HPO:0001251) Ataxia rare [HPO:skoehler] 413 / 7739
10
 (HPO:0002066) Gait ataxia 327 / 7739
11
 (HPO:0002311) Incoordination 84 / 7739
12
 (HPO:0001337) Tremor rare [HPO:skoehler] 200 / 7739
13
 (HPO:0001371) Flexion contracture rare [HPO:skoehler] 220 / 7739
14
 (HPO:0002650) Scoliosis rare [HPO:skoehler] 705 / 7739
15
 (HPO:0003079) Defective DNA repair after ultraviolet radiation damage 9 / 7739
16
 (HPO:0004322) Short stature rare [HPO:skoehler] 1232 / 7739
17
 (HPO:0004325) Decreased body weight rare [HPO:skoehler] 492 / 7739
18
 (HPO:0007587) Numerous pigmented freckles 22 / 7739
19
 (HPO:0008069) Neoplasm of the skin rare [HPO:skoehler] 84 / 7739
20
 (HPO:0012444) Brain atrophy rare [HPO:skoehler] 24 / 7739
21
 (HPO:0200034) Papule 12 / 7739
22
 (HPO:0009473) Joint contracture of the hand 84 / 7739
23
 (OMIM) Seborrheic keratosis-like papules 1 / 7739
24
 (OMIM) Rare skin cancers 1 / 7739
25
 (HPO:0200043) Verrucae 11 / 7739
26
 (OMIM) Hyperpigmentation 24 / 7739
27
 (HPO:0001328) Specific learning disability 114 / 7739
28
 (OMIM) Skin cancer susceptibility 1 / 7739
29
 (OMIM) Patient cells show defective transcription-coupled and global genome nucleotide excision repair (NER) 1 / 7739
30
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
31
 (HPO:0003812) Phenotypic variability 129 / 7739