Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) and microcephaly.
Ishikiriyama
S
S
Goto
M
M
D000015:Abnormalities, Multiple / Q000235:genetics*; D016569:Blepharophimosis / Q000235:genetics*; D001763:Blepharoptosis / Q000235:genetics*; D001921:Brain / Q000002:abnormalities; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002893:Chromosomes, Human, Pair 3 / Q000648:ultrastructure*; D005143:Eyelids / Q000002:abnormalities*; D005260:Female; D006801:Humans; D008297:Male; D008831:Microcephaly / Q000235:genetics*; D017384:Sequence Deletion; D013577:Syndrome