|
1
|
(HPO:0000153)
|
Abnormality of the mouth |
|
|
|
|
60 / 7739
|
|
2
|
(HPO:0000618)
|
Blindness |
|
|
|
|
124 / 7739
|
|
3
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
4
|
(HPO:0007759)
|
Opacification of the corneal stroma |
|
|
|
|
77 / 7739
|
|
5
|
(HPO:0000629)
|
Periorbital fullness |
|
|
|
|
13 / 7739
|
|
6
|
(HPO:0100539)
|
Periorbital edema |
|
|
|
|
8 / 7739
|
|
7
|
(HPO:0100540)
|
Palpebral edema |
|
|
|
|
31 / 7739
|
|
8
|
(OMIM)
|
Leukoma |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Primary amyloidosis of gingiva |
|
|
|
|
1 / 7739
|
|
10
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
11
|
(HPO:0011034)
|
Amyloidosis |
|
|
|
|
12 / 7739
|