|
1
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
2
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
|
3
|
(HPO:0000336)
|
Prominent supraorbital ridges |
|
|
|
|
45 / 7739
|
|
4
|
(HPO:0000340)
|
Sloping forehead |
|
|
|
|
86 / 7739
|
|
5
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
|
|
524 / 7739
|
|
6
|
(HPO:0000448)
|
Prominent nose |
|
|
|
|
56 / 7739
|
|
7
|
(HPO:0000510)
|
Rod-cone dystrophy |
|
|
|
|
266 / 7739
|
|
8
|
(HPO:0000523)
|
Subcapsular cataract |
|
|
|
|
12 / 7739
|
|
9
|
(HPO:0000577)
|
Exotropia |
|
|
|
|
43 / 7739
|
|
10
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
11
|
(HPO:0002751)
|
Kyphoscoliosis |
|
|
|
|
131 / 7739
|
|
12
|
(HPO:0010541)
|
Cutis gyrata of scalp |
|
|
|
|
6 / 7739
|
|
13
|
(HPO:0100019)
|
Cortical cataract |
|
|
|
|
3 / 7739
|
|
14
|
(OMIM)
|
Progressive retinitis pigmentosa |
|
|
|
|
4 / 7739
|
|
15
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|