|
1
|
(HPO:0001000)
|
Abnormality of skin pigmentation |
|
|
|
|
105 / 7739
|
|
2
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
3
|
(HPO:0001258)
|
Spastic paraplegia |
|
|
|
|
97 / 7739
|
|
4
|
(HPO:0003167)
|
Carnosinuria |
|
|
3736769
|
IBIS
|
3 / 7739
|
|
5
|
(HPO:0007703)
|
Abnormality of retinal pigmentation |
|
|
|
|
21 / 7739
|
|
6
|
(MedDRA:10038894)
|
Retinal pigmentation |
|
|
|
|
4 / 7739
|
|
7
|
(OMIM)
|
Elevated homocarnosine |
|
|
|
|
1 / 7739
|
|
8
|
(OMIM)
|
Brain homocarnosinase deficiency |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Serum carnosinase deficiency |
|
|
|
|
1 / 7739
|
|
10
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|