has material basis in germline mutation in
CSPP1
Joubert syndrome 21
UMLS:C3810212
DOID:0110990
GARD:15997
MONDO:0014288
CSPP1 Joubert syndrome
Joubert syndrome 21
Joubert syndrome caused by mutation in CSPP1
OMIM:615636
JBTS21
Joubert syndrome type 21
Any Joubert syndrome in which the cause of the disease is a mutation in the CSPP1 gene.
Joubert syndrome with Jeune asphyxiating thoracic dystrophy
Joubert syndrome