Craniofacial anomalies, cataracts, congenital heart disease, sacral neural tube defects, and growth and developmental retardation in two sisters: a new autosomal recessive MCA/MR syndrome?
Siegel-Bartlet
J
J
Levin
A
A
Teebi
A S
AS
Kennedy
S J
SJ
D000015:Abnormalities, Multiple / Q000235:genetics*; D002386:Cataract / Q000235:genetics*; D002648:Child; D019465:Craniofacial Abnormalities / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive / Q000235:genetics*; D006331:Heart Diseases / Q000151:congenital* / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D009436:Neural Tube Defects / Q000235:genetics*; D009679:Nuclear Family; D012445:Sacrococcygeal Region; D013577:Syndrome