|
1
|
(HPO:0000482)
|
Microcornea |
Frequent [Orphanet]
|
|
|
|
102 / 7739
|
|
2
|
(HPO:0000348)
|
High forehead |
Frequent [Orphanet]
|
|
|
|
157 / 7739
|
|
3
|
(HPO:0000684)
|
Delayed eruption of teeth |
Very frequent [Orphanet]
|
|
|
|
117 / 7739
|
|
4
|
(HPO:0000612)
|
Iris coloboma |
Frequent [Orphanet]
|
|
|
|
116 / 7739
|
|
5
|
(HPO:0000581)
|
Blepharophimosis |
Occasional [Orphanet]
|
|
|
|
197 / 7739
|
|
6
|
(HPO:0001107)
|
Ocular albinism |
Frequent [Orphanet]
|
|
|
|
40 / 7739
|
|
7
|
(HPO:0001053)
|
Hypopigmented skin patches |
Very frequent [Orphanet]
|
|
|
|
80 / 7739
|
|
8
|
(HPO:0000540)
|
Hypermetropia |
Occasional [Orphanet]
|
|
|
|
99 / 7739
|
|
9
|
(HPO:0001288)
|
Gait disturbance |
Frequent [Orphanet]
|
|
|
|
318 / 7739
|
|
10
|
(HPO:0005599)
|
Hypopigmentation of hair |
Very frequent [Orphanet]
|
|
|
|
38 / 7739
|
|
11
|
(HPO:0001276)
|
Hypertonia |
Occasional [Orphanet]
|
|
|
|
317 / 7739
|
|
12
|
(HPO:0000957)
|
Cafe-au-lait spot |
Very frequent [Orphanet]
|
|
|
|
84 / 7739
|
|
13
|
(HPO:0000486)
|
Strabismus |
Very frequent [Orphanet]
|
|
|
|
576 / 7739
|
|
14
|
(HPO:0000679)
|
Taurodontia |
Occasional [Orphanet]
|
|
|
|
27 / 7739
|
|
15
|
(HPO:0000322)
|
Short philtrum |
Frequent [Orphanet]
|
|
|
|
130 / 7739
|
|
16
|
(HPO:0001572)
|
Macrodontia |
Very frequent [Orphanet]
|
|
|
|
9 / 7739
|
|
17
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Very frequent [Orphanet]
|
|
|
|
524 / 7739
|
|
18
|
(HPO:0008625)
|
Severe sensorineural hearing impairment |
|
|
|
|
150 / 7739
|
|
19
|
(HPO:0002705)
|
High, narrow palate |
Occasional [Orphanet]
|
|
|
|
308 / 7739
|
|
20
|
(HPO:0007400)
|
Irregular hyperpigmentation |
Very frequent [Orphanet]
|
|
|
|
72 / 7739
|
|
21
|
(HPO:0007587)
|
Numerous pigmented freckles |
Very frequent [Orphanet]
|
|
|
|
22 / 7739
|
|
22
|
(HPO:0000639)
|
Nystagmus |
Very frequent [Orphanet]
|
|
|
|
555 / 7739
|
|
23
|
(HPO:0000567)
|
Chorioretinal coloboma |
|
|
|
|
26 / 7739
|
|
24
|
(HPO:0000611)
|
Choroid coloboma |
|
|
|
|
12 / 7739
|
|
25
|
(HPO:0007509)
|
Patchy hypo- and hyperpigmentation |
|
|
|
|
2 / 7739
|
|
26
|
(OMIM)
|
White anterior scalp hair |
|
|
|
|
1 / 7739
|
|
27
|
(OMIM)
|
Multiple freckles |
|
|
|
|
1 / 7739
|
|
28
|
(OMIM)
|
Severe early sensorineural hearing loss |
|
|
|
|
1 / 7739
|
|
29
|
(HPO:0011484)
|
Posterior synechiae of the anterior chamber |
Frequent [Orphanet]
|
|
|
|
5 / 7739
|
|
30
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
31
|
(HPO:0002211)
|
White forelock |
|
|
|
|
18 / 7739
|