Additional Disease Briefs


Joubert syndrome 1

Also known as: CORS1, CPD4, Cerebellooculorenal syndrome 1, INPP5E Joubert syndrome, JBTS1, Joubert syndrome, Joubert syndrome 1, Joubert syndrome caused by mutation in INPP5E, Joubert syndrome type 1, Joubert-Boltshauser syndrome, cerebellooculorenal syndrome 1, cerebelloparenchymal disorder 4


Joubert syndrome 10

Also known as: JBTS10, Joubert syndrome 10, Joubert syndrome 10, X-linked recessive, Joubert syndrome caused by mutation in OFD1, Joubert syndrome type 10, OFD1 Joubert syndrome


Joubert syndrome 13

Also known as: JBTS13, Joubert syndrome 13, Joubert syndrome caused by mutation in TCTN1, Joubert syndrome type 13, TCTN1 Joubert syndrome


Joubert syndrome 14

Also known as: JBTS14, Joubert syndrome 14, Joubert syndrome caused by mutation in TMEM237, Joubert syndrome type 14, TMEM237 Joubert syndrome


Joubert syndrome 15

Also known as: CEP41 Joubert syndrome, JBTS15, Joubert syndrome 12/15, digenic, Joubert syndrome 15, Joubert syndrome 9/15, digenic, Joubert syndrome caused by mutation in CEP41, Joubert syndrome type 15


Joubert syndrome 16

Also known as: JBTS16, Joubert syndrome 16, Joubert syndrome caused by mutation in TMEM138, Joubert syndrome type 16, TMEM138 Joubert syndrome


Joubert syndrome 17

Also known as: CPLANE1 Joubert syndrome, JBTS17, Joubert syndrome 17, Joubert syndrome caused by mutation in CPLANE1, Joubert syndrome type 17


Joubert syndrome 18

Also known as: JBTS18, Joubert syndrome 18, Joubert syndrome caused by mutation in TCTN3, Joubert syndrome type 18, TCTN3 Joubert syndrome


Joubert syndrome 2

Also known as: CORS2, Cerebellooculorenal syndrome 2, JBTS2, Joubert syndrome 2, Joubert syndrome caused by mutation in TMEM216, Joubert syndrome type 2, TMEM216 Joubert syndrome, cerebellooculorenal syndrome 2