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Baraitser-Winter Syndrome 1 (MONDO:0009470)

Any Baraitser-Winter cerebrofrontofacial syndrome in which the cause of the disease is a mutation in the ACTB gene.

Overview

Category

Ontology ID

Internal:10696

Synonyms

ACTB Baraitser-Winter cerebrofrontofacial syndrome

ACTB-related BAFopathy

Baraitser-Winter cerebrofrontofacial syndrome caused by mutation in ACTB

Baraitser-Winter syndrome 1

Baraitser-Winter syndrome type 1

Fryns-Aftimos syndrome

cerebrofrontofacial syndrome

BRWS1

Baraitser-WINTER syndrome 1

cerebrooculofacial lymphatic syndrome

chromosome 7P22 deletion syndrome

intellectual disability with epilepsy and characteristic facies

iris coloboma with ptosis, hypertelorism, and intellectual disability

iris coloboma with ptosis, hypertelorism, and mental retardation

mental retardation with epilepsy and characteristic facies

pachygyria, intellectual disability, epilepsy, and characteristic facies

pachygyria, mental retardation, epilepsy, and characteristic facies

Mapped terms

DOID:0081112

GARD:0015189

MEDGEN:340943

OMIM:243310

UMLS:C1855722

Child terms

Unknown children.