Condition: Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation


rs281875331 in ACTB gene and Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation PMID 25052316 2015 Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.

PMID 22366783 2012 De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.

PMID 10411937 1999 A heterozygous mutation of beta-actin associated with neutrophil dysfunction and recurrent infection.