Joubert syndrome 1
Any Joubert syndrome in which the cause of the disease is a mutation in the INPP5E gene.
MONDO:0018772
Joubert syndrome
is_a
CORS1
exact
CPD4
exact
INPP5E Joubert syndrome
exact
JBTS1
exact
Joubert syndrome 1
exact
Joubert syndrome caused by mutation in INPP5E
exact
Joubert syndrome type 1
exact
cerebellooculorenal syndrome 1
exact