title: A syndrome of congenital thrombocytopenia with multiple malformations and neurologic dysfunction.
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D005149:Facial Expression; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007233:Infant, Postmature; D008297:Male; D009422:Nervous System Diseases / Q000151:congenital*; D013577:Syndrome; D013921:Thrombocytopenia / Q000151:congenital* / Q000235:genetics