Symptom Information: Sort according to HPO 

1
 (HPO:0002652) Skeletal dysplasia Occasional [Orphanet] 113 / 7739
2
 (HPO:0000572) Visual loss Very frequent [Orphanet] 272 / 7739
3
 (HPO:0000618) Blindness 124 / 7739
4
 (HPO:0003777) Pili torti Frequent [Orphanet] 24 / 7739
5
 (HPO:0002299) Brittle hair Frequent [Orphanet] 52 / 7739
6
 (HPO:0008002) Abnormality of macular pigmentation Very frequent [Orphanet] 20 / 7739
7
 (HPO:0100326) Immunologic hypersensitivity Occasional [Orphanet] 28 / 7739
8
 (HPO:0007754) Macular dystrophy 26 / 7739
9
 (HPO:0000995) Melanocytic nevus Occasional [Orphanet] 63 / 7739
10
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
11
 (HPO:0002213) Fine hair Frequent [Orphanet] 77 / 7739
12
 (HPO:0001006) Hypotrichosis Very frequent [Orphanet] 219 / 7739
13
 (HPO:0000962) Hyperkeratosis Occasional [Orphanet] 216 / 7739
14
 (HPO:0007587) Numerous pigmented freckles Occasional [Orphanet] 22 / 7739
15
 (HPO:0000639) Nystagmus Occasional [Orphanet] 555 / 7739
16
 (HPO:0000164) Abnormality of the teeth 291 / 7739
17
 (HPO:0000505) Visual impairment 297 / 7739
18
 (HPO:0001597) Abnormality of the nail 115 / 7739
19
 (OMIM) Progressive juvenile macular dystrophy (onset 3-21 years) 1 / 7739
20
 (OMIM) Normal teeth 15 / 7739
21
 (OMIM) Normal fingernails 2 / 7739
22
 (OMIM) Fusiform beading of hair shaft 1 / 7739
23
 (HPO:0008059) Aplasia/Hypoplasia of the macula Very frequent [Orphanet] 21 / 7739
24
 (HPO:0040064) Abnormality of limbs Occasional [Orphanet] 16 / 7739
25
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
26
 (HPO:0000548) Cone/cone-rod dystrophy 47 / 7739
27
 (HPO:0007663) Reduced visual acuity 100 / 7739