Aicardi-Goutieres syndrome
Aicardi-Goutieres syndrome (AGS) is an inherited, subacute encephalopathy characterized by the association of basal ganglia calcification, leukodystrophy and cerebrospinal fluid (CSF) lymphocytosis.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0018792
obsolete Moyamoya syndrome (obsolete MONDO:0018792)
excluded_subClassOf
MONDO:0003778
inborn error of immunity
is_a
MONDO:0006025
autosomal recessive disease
is_a
MONDO:0019046
leukodystrophy
is_a
MONDO:0023603
hereditary disorder of connective tissue
is_a
MONDO:0957408
type 1 interferonopathy of childhood
is_a
AGS
related
Aicardi Goutieres syndrome
exact
Aicardi-Goutières Syndrome
exact
Cree encephalitis
exact
encephalopathy with basal ganglia calcification
exact
encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid
exact
encephalopathy, familial infantile, with calcification of basal ganglia and chronic cerebrospinal fluid lymphocytosis
related
pseudotoxoplasmosis syndrome
related
SPAC12B10.15c SPBC1347.08c SPBC16A3.06 SPAC4G9.02