Aicardi syndrome
AIC
exact
Aicardi syndrome
exact
Aicardi syndrome, X-linked dominant
exact
Aicardi’s syndrome
exact
agenesis of corpus callosum with chorioretinal abnormality
exact
corpus callosum agenesis of with chorioretinal abnormality
exact
corpus callosum, agenesis of, with chorioretinal abnormality
exact
Aicardi syndrome is a rare neurodevelopmental disorder defined by the triad of agenesis of the corpus callosum (total or partial), typical chorioretinal lacunae and infantile spasms that affect almost exclusively females.
MONDO:0015218
obsolete syndromic developmental defect of the eye (obsolete MONDO:0015218)
excluded_subClassOf
MONDO:0020119
X-linked syndromic intellectual disability
excluded_subClassOf
MONDO:0002254
syndromic disease
is_a
MONDO:0021147
disorder of development or morphogenesis
is_a
MONDO:0700092
neurodevelopmental disorder
is_a