Joubert syndrome 17
Any Joubert syndrome in which the cause of the disease is a mutation in the CPLANE1 gene.
MONDO:0018772
Joubert syndrome
is_a
CPLANE1 Joubert syndrome
exact
JBTS17
exact
Joubert syndrome 17
exact
Joubert syndrome caused by mutation in CPLANE1
exact
Joubert syndrome type 17
exact