Additional Disease Briefs

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Use the form below to explore NORD's comprehensive rare disease database. Search for detailed information on rare diseases, including NORD's authoritative Rare Disease Reports and data from other reliable sources.
* = NORD Rare Disease Report

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Rare Disease Database Reports Additional Rare Disease Briefs
Joubert syndrome 5

Also known as: CEP290 Joubert syndrome, JBTS5, Joubert syndrome 5, Joubert syndrome caused by mutation in CEP290, Joubert syndrome type 5

Joubert syndrome 6

Also known as: JBTS6, Joubert syndrome 6, Joubert syndrome caused by mutation in TMEM67, Joubert syndrome type 6, TMEM67 Joubert syndrome

Joubert syndrome 7

Also known as: JBTS7, Joubert syndrome 7, Joubert syndrome caused by mutation in RPGRIP1L, Joubert syndrome type 7, RPGRIP1L Joubert syndrome

Joubert syndrome 8

Also known as: ARL13B Joubert syndrome, JBTS8, Joubert syndrome 8, Joubert syndrome caused by mutation in ARL13B, Joubert syndrome type 8

Joubert syndrome 9

Also known as: CC2D2A Joubert syndrome, JBTS9, Joubert syndrome 9, Joubert syndrome 9/15, digenic, Joubert syndrome caused by mutation in CC2D2A, Joubert syndrome type 9

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