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Senior-Loken syndrome 1 | RareConnect | RareConnect.io

/Senior-Loken syndrome

/Senior-Loken syndrome 1

Senior-Loken syndrome 1

Rare Disease

MONDO:0009962

Also Known As

NPHP1 Senior-Loken syndromeSenior-Loken syndrome 1Senior-Loken syndrome caused by mutation in NPHP1Senior-Loken syndrome type 1senior-loken syndrome-1Loken-Senior syndromeSENIOR-Loken syndrome 1SLSN1Senior-Loken syndromejuvenile nephronophthisis with Leber amaurosisrenal dysplasia and retinal aplasiarenal-retinal syndrome

Definition

Any Senior-Loken syndrome in which the cause of the disease is a mutation in the NPHP1 gene.

Patient-Friendly Information

Comprehensive, easy-to-understand information about this condition

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Associated Genes

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:266900 ↗

Related Diseases

senior-loken syndrome 3

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Senior-Loken syndrome 5

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Senior-Loken syndrome 6

MONDO:0012433

Senior-Loken syndrome 7

MONDO:0013326

nephronophthisis 15

MONDO:0013917

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