Chorio-retinal dysplasia, microcephaly and mental retardation. An autosomal dominant syndrome.
D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D002829:Choroid / Q000002:abnormalities*; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D008831:Microcephaly / Q000235:genetics*; D008875:Middle Aged; D010375:Pedigree; D012160:Retina / Q000002:abnormalities*; D013577:Syndrome