Joubert syndrome 7
Any Joubert syndrome in which the cause of the disease is a mutation in the RPGRIP1L gene.
MONDO:0018772
Joubert syndrome
is_a
JBTS7
exact
Joubert syndrome 7
exact
Joubert syndrome caused by mutation in RPGRIP1L
exact
Joubert syndrome type 7
exact
RPGRIP1L Joubert syndrome
exact