Keratoconus posticus circumscriptus, cleft lip and palate, genitourinary abnormalities, short stature, and mental retardation in sibs.
D000328:Adult; D001827:Body Height; D002648:Child; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007640:Keratoconus / Q000235:genetics*; D008297:Male; D013577:Syndrome; D014564:Urogenital Abnormalities