Microcephaly-cardiomyopathy: a new autosomal recessive phenotype?
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.
Winship
I M
IM
Department of Human Genetics, University of Cape Town Medical School, Observatory, South Africa.
Viljoen
D L
DL
Leary
P M
PM
De Moor
M M
MM
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