Blepharophimosis, iris coloboma, microgenia, hearing loss, postaxial polydactyly, aplasia of corpus callosum, hydroureter, and developmental delay.
Department of Medical Genetics, Wilrijk, Belgium.
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I
Buntinx
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F
Majewski
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