Autosomal recessive cerebro-oculo-facio-skeletal (COFS) syndrome.
D000015:Abnormalities, Multiple; D001842:Bone and Bones / Q000002:abnormalities*; D002869:Chromosome Aberrations / Q000235:genetics / Q000473:pathology; D025063:Chromosome Disorders; D005124:Eye Abnormalities; D005145:Face / Q000002:abnormalities*; D005260:Female; D006801:Humans; D007022:Hypotension / Q000235:genetics; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree; D013577:Syndrome