|
1
|
(HPO:0000545)
|
Myopia |
Very frequent [Orphanet]
|
|
|
|
286 / 7739
|
|
2
|
(HPO:0000924)
|
Abnormality of the skeletal system |
Occasional [Orphanet]
|
|
|
|
114 / 7739
|
|
3
|
(HPO:0200042)
|
Skin ulcer |
Occasional [Orphanet]
|
|
|
|
138 / 7739
|
|
4
|
(HPO:0001287)
|
Meningitis |
Occasional [Orphanet]
|
|
|
|
46 / 7739
|
|
5
|
(HPO:0000510)
|
Rod-cone dystrophy |
Very frequent [Orphanet]
|
|
|
|
266 / 7739
|
|
6
|
(HPO:0003010)
|
Prolonged bleeding time |
Occasional [Orphanet]
|
|
|
|
88 / 7739
|
|
7
|
(HPO:0000639)
|
Nystagmus |
Very frequent [Orphanet]
|
|
|
|
555 / 7739
|
|
8
|
(HPO:0001362)
|
Calvarial skull defect |
Very frequent [Orphanet]
|
|
|
|
22 / 7739
|
|
9
|
(HPO:0006934)
|
Congenital nystagmus |
|
|
|
|
10 / 7739
|
|
10
|
(HPO:0007536)
|
Aplasia cutis congenita of midline scalp vertex |
|
|
|
|
1 / 7739
|
|
11
|
(HPO:0008065)
|
Aplasia/Hypoplasia of the skin |
Very frequent [Orphanet]
|
|
|
|
81 / 7739
|
|
12
|
(HPO:0011003)
|
Severe Myopia |
|
|
|
|
31 / 7739
|
|
13
|
(OMIM)
|
Cone-rod dysfunction |
|
|
|
|
1 / 7739
|
|
14
|
(HPO:0012639)
|
Abnormality of nervous system morphology |
Occasional [Orphanet]
|
|
|
|
25 / 7739
|
|
15
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|