Joubert syndrome
Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.
MONDO:0020130
obsolete malformation of the cerebellar vermis (obsolete MONDO:0020130)
excluded_subClassOf
MONDO:0002254
syndromic disease
is_a
MONDO:0005308
ciliopathy
is_a
MONDO:0021147
disorder of development or morphogenesis
is_a
CPD IV
exact
Joubert syndrome
exact
Joubert syndrome type A
exact
Joubert-Boltshauser syndrome
exact
cerebellar vermis agenesis
related
cerebelloparenchymal disorder IV
exact
classic Joubert syndrome
exact
pure Joubert syndrome
exact