Leber congenital amaurosis 10
GPTKB entity
Statements (19)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:Leber_congenital_amaurosis_subtype
genetic disorder |
| gptkbp:affects |
retina
|
| gptkbp:causedBy |
mutation in CEP290 gene
|
| gptkbp:frequency |
rare
|
| https://www.w3.org/2000/01/rdf-schema#label |
Leber congenital amaurosis 10
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:OMIM |
611755
|
| gptkbp:onset |
congenital
|
| gptkbp:symptom |
nystagmus
amaurosis photophobia abnormal pupillary reflex severe visual impairment |
| gptkbp:synonym |
gptkb:LCA10
|
| gptkbp:treatment |
supportive care
gene therapy (experimental) |
| gptkbp:bfsParent |
gptkb:EDIT-101
|
| gptkbp:bfsLayer |
6
|