/Baraitser-Winter syndrome 1

Baraitser-Winter syndrome 1

Rare Disease

MONDO:0009470

Also Known As

ACTB Baraitser-Winter cerebrofrontofacial syndromeACTB-related BAFopathyBaraitser-Winter cerebrofrontofacial syndrome caused by mutation in ACTBBaraitser-Winter syndrome 1Baraitser-Winter syndrome type 1Fryns-Aftimos syndromecerebrofrontofacial syndromeBRWS1Baraitser-WINTER syndrome 1cerebrooculofacial lymphatic syndromechromosome 7P22 deletion syndromeintellectual disability with epilepsy and characteristic faciesiris coloboma with ptosis, hypertelorism, and intellectual disabilityiris coloboma with ptosis, hypertelorism, and mental retardationmental retardation with epilepsy and characteristic faciespachygyria, intellectual disability, epilepsy, and characteristic faciespachygyria, mental retardation, epilepsy, and characteristic facies