Joubert syndrome with ocular defect
Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with retinal dystrophy.
MONDO:0015368
obsolete neuro-ophthalmological disease (obsolete MONDO:0015368)
excluded_subClassOf
MONDO:0002254
syndromic disease
is_a
MONDO:0015369
Joubert syndrome and related disorders
is_a
MONDO:0020022
central nervous system malformation
is_a
MONDO:0024458
disorder of visual system
is_a
JBTS3
related
JS-O
exact
Joubert syndrome 3
related
Joubert syndrome with ocular anomalies
related
Joubert syndrome with retinopathy
exact