Joubert syndrome 2
Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM216 gene.
MONDO:0009480
Joubert syndrome with oculorenal defect
is_a
MONDO:0018772
Joubert syndrome
is_a
CORS2
exact
JBTS2
exact
Joubert syndrome 2
exact
Joubert syndrome caused by mutation in TMEM216
exact
Joubert syndrome type 2
exact
TMEM216 Joubert syndrome
exact
cerebellooculorenal syndrome 2
exact