Smith-Lemli-Opitz syndrome with cardiovascular abnormality.
D000015:Abnormalities, Multiple / Q000175:diagnosis; D005149:Facial Expression; D005260:Female; D006128:Growth; D006130:Growth Disorders / Q000175:diagnosis; D006330:Heart Defects, Congenital / Q000150:complications* / Q000175:diagnosis; D006801:Humans; D007037:Hypothyroidism / Q000175:diagnosis; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000175:diagnosis; D007621:Karyotyping; D008831:Microcephaly / Q000175:diagnosis