Joubert syndrome 5
Any Joubert syndrome in which the cause of the disease is a mutation in the CEP290 gene.
MONDO:0009480
Joubert syndrome with oculorenal defect
is_a
MONDO:0018772
Joubert syndrome
is_a
MONDO:0100451
CEP290-related ciliopathy
is_a
CEP290 Joubert syndrome
exact
JBTS5
exact
Joubert syndrome 5
exact
Joubert syndrome caused by mutation in CEP290
exact
Joubert syndrome type 5
exact