Joubert syndrome 22
Any Joubert syndrome in which the cause of the disease is a mutation in the PDE6D gene.
MONDO:0018772
Joubert syndrome
is_a
JBTS22
exact
Joubert syndrome 22
exact
Joubert syndrome caused by mutation in PDE6D
exact
Joubert syndrome type 22
exact
PDE6D Joubert syndrome
exact