Blepharophimosis, iris coloboma, microgenia, hearing loss, postaxial polydactyly, aplasia of corpus callosum, hydroureter, and developmental delay.
Buntinx
I
I
Department of Medical Genetics, Wilrijk, Belgium.
Majewski
F
F
D000015:Abnormalities, Multiple; D061085:Agenesis of Corpus Callosum; D002675:Child, Preschool; D003103:Coloboma; D002658:Developmental Disabilities; D005141:Eyelid Diseases; D006311:Hearing Disorders; D006801:Humans; D007498:Iris / Q000002:abnormalities; D008297:Male; D010688:Phimosis; D013577:Syndrome; D014513:Ureter / Q000002:abnormalities