title: Microcephaly-cardiomyopathy: a new autosomal recessive phenotype?
abstract: A distinctive phenotype of severe microcephaly and self-limiting dilated cardiomyopathy has been observed in two sibs suggesting autosomal recessive inheritance. Mental retardation, delayed developmental milestones, and minor dysmorphism were additional features.
authors.affiliation: Department of Human Genetics, University of Cape Town Medical School, Observatory, South Africa.
authors.forename: I M
authors.initials: IM
authors.lastname: Winship
authors.forename: D L
authors.initials: DL
authors.lastname: Viljoen
authors.forename: P M
authors.initials: PM
authors.lastname: Leary
authors.forename: M M
authors.initials: MM
authors.lastname: De Moor
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002311:Cardiomyopathy, Dilated / Q000235:genetics*; D004431:Ear, External / Q000002:abnormalities; D005145:Face / Q000002:abnormalities; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D008831:Microcephaly / Q000235:genetics*; D010641:Phenotype; D013577:Syndrome