|
1
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
|
|
524 / 7739
|
|
2
|
(HPO:0000509)
|
Conjunctivitis |
|
|
|
|
47 / 7739
|
|
3
|
(HPO:0000545)
|
Myopia |
|
|
|
|
286 / 7739
|
|
4
|
(HPO:0000563)
|
Keratoconus |
|
|
|
|
25 / 7739
|
|
5
|
(HPO:0000613)
|
Photophobia |
|
|
|
|
158 / 7739
|
|
6
|
(HPO:0000633)
|
Decreased lacrimation |
|
|
|
|
6 / 7739
|
|
7
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
8
|
(HPO:0001394)
|
Cirrhosis |
|
|
|
|
102 / 7739
|
|
9
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
10
|
(HPO:0001596)
|
Alopecia |
|
|
|
|
162 / 7739
|
|
11
|
(HPO:0001808)
|
Fragile nails |
|
|
|
|
21 / 7739
|
|
12
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
13
|
(HPO:0008064)
|
Ichthyosis |
|
|
|
|
108 / 7739
|
|
14
|
(HPO:0001097)
|
Keratoconjunctivitis sicca |
|
|
|
|
25 / 7739
|
|
15
|
(OMIM)
|
Hepatic glycogen storage |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Short, fragile nails |
|
|
|
|
1 / 7739
|
|
17
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
18
|
(HPO:0001019)
|
Erythroderma |
|
|
|
|
24 / 7739
|