Unusual facial appearance, microcephaly, growth and mental retardation, and syndactyly. A new syndrome?
A syndrome with similarities to blepharo-naso-facial and KBG syndromes is described, indicating some important differences.
D000015:Abnormalities, Multiple / Q000235:genetics*; D005145:Face / Q000002:abnormalities*; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D006130:Growth Disorders / Q000150:complications*; D006801:Humans; D008607:Intellectual Disability / Q000150:complications*; D008297:Male; D008831:Microcephaly / Q000150:complications*; D013577:Syndrome; D014034:Toes / Q000002:abnormalities