An oculocerebrofacial syndrome.
A syndrome of mental retardation, microcephaly, a mongoloid slant to the palpebral fissures, microcornea, strabismus, myopia, optic atrophy, high-arched palate, preauricular skin tags and small mandible is described in four (including one set of twins) of seven sibs born to unaffected, nonconsanguineous parents of German ancestry. An autosomal recessive mode of inheritance seems most likely.
D000293:Adolescent; D002675:Child, Preschool; D005124:Eye Abnormalities; D005128:Eye Diseases / Q000235:genetics*; D005147:Facial Bones / Q000002:abnormalities*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D008831:Microcephaly / Q000235:genetics*; D008844:Micrognathism / Q000235:genetics; D009216:Myopia / Q000235:genetics; D009896:Optic Atrophy / Q000235:genetics; D010375:Pedigree; D013285:Strabismus / Q000235:genetics; D013577:Syndrome