Joubert syndrome with renal defect
A rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy.
MONDO:0019741
familial cystic renal disease
excluded_subClassOf
MONDO:0020022
central nervous system malformation
excluded_subClassOf
MONDO:0018772
Joubert syndrome
is_a
JBTS4
exact
JS-R
exact
Joubert syndrome 4
related
Joubert syndrome type 4
exact
Joubert syndrome with renal anomalies
related