MCA/MR syndrome with bilateral ablepharon of the upper eyelids, ambiguous genitalia, facial and skeletal anomalies.
Ioan
D M
DM
Department of Medical Genetics, Institute of Endocrinology, Bucharest, Roumania.
Baloni
C
C
Fryns
J P
JP
D000015:Abnormalities, Multiple; D012734:Disorders of Sex Development; D005143:Eyelids / Q000002:abnormalities*; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability; D008662:Metacarpophalangeal Joint / Q000002:abnormalities*; D009139:Musculoskeletal Abnormalities; D013577:Syndrome