Joubert syndrome with oculorenal defect (Q61802): Difference between revisions
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A síndrome de Joubert com deficiência oculorrenal é um subtipo raro de distúrbios relacionados à síndrome de Joubert (JSRD), caracterizada pelos aspectos neurológicos de JS associados a doença renal (nefronoftise, geralmente juvenil) e ocular (manifestando-se com amaurose congênita de Leber ou distrofia retiniana progressiva) . | |||
| description / en | description / en | ||
Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome related disorders (JSRD) characterised by the neurological features of JS associated with both renal (nephronophthisis, usually juvenile) and ocular disease (manifesting with either Leber congenital amaurosis, or progressive retinal dystrophy). | |||
Revision as of 09:18, 14 August 2026
Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome related disorders (JSRD) characterised by the neurological features of JS associated with both renal (nephronophthisis, usually juvenile) and ocular disease (manifesting with either Leber congenital amaurosis, or progressive retinal dystrophy).
| Language | Label | Description | Also known as |
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| default for all languages | ID_397835469 |
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| English | Joubert syndrome with oculorenal defect |
Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome related disorders (JSRD) characterised by the neurological features of JS associated with both renal (nephronophthisis, usually juvenile) and ocular disease (manifesting with either Leber congenital amaurosis, or progressive retinal dystrophy). |
