Baraitser-Winter syndrome 1
Any Baraitser-Winter cerebrofrontofacial syndrome in which the cause of the disease is a mutation in the ACTB gene.
MONDO:0017579
Baraitser-Winter cerebrofrontofacial syndrome
is_a
MONDO:0700120
BAFopathy
is_a
ACTB Baraitser-Winter cerebrofrontofacial syndrome
exact
ACTB-related BAFopathy
exact
BRWS1
related
Baraitser-Winter cerebrofrontofacial syndrome caused by mutation in ACTB
exact
Baraitser-Winter syndrome 1
exact
Baraitser-Winter syndrome type 1
exact
Fryns-Aftimos syndrome
exact
cerebrofrontofacial syndrome
exact
iris coloboma with ptosis, hypertelorism, and mental retardation
related
mental retardation with epilepsy and characteristic facies
related
pachygyria, mental retardation, epilepsy, and characteristic facies
related