Joubert syndrome 28
Any Joubert syndrome in which the cause of the disease is a mutation in the MKS1 gene.
MONDO:0016364
Joubert syndrome with ocular defect
is_a
MONDO:0018772
Joubert syndrome
is_a
MONDO:1040068
MKS1-related ciliopathy
is_a
JBTS28
exact
Joubert syndrome 28
exact
Joubert syndrome caused by mutation in MKS1
exact
Joubert syndrome type 28
exact
MKS1 Joubert syndrome
exact