Joubert syndrome 21
Any Joubert syndrome in which the cause of the disease is a mutation in the CSPP1 gene.
MONDO:0018342
Joubert syndrome with Jeune asphyxiating thoracic dystrophy
is_a
MONDO:0018772
Joubert syndrome
is_a
CSPP1 Joubert syndrome
exact
JBTS21
exact
Joubert syndrome 21
exact
Joubert syndrome caused by mutation in CSPP1
exact
Joubert syndrome type 21
exact