Syndrome of cataract, mild microcephaly, mental retardation and Perthes-like changes in sibs.
Cataract, microcephaly, mental retardation and Perthes-like changes in hips were found in two sibs. This combination of congenital anomalies may be a syndrome of autosomal recessive origin.
Czeizel
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A
Department of Human Genetics and Teratology, WHO Collaborating Centre for the Community Control of Hereditary Diseases, National Institute of Hygiene, Budapest, Hungary.
Lowry
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RB
D002386:Cataract / Q000151:congenital / Q000235:genetics*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D007873:Legg-Calve-Perthes Disease / Q000235:genetics*; D008297:Male; D008831:Microcephaly / Q000235:genetics*; D010641:Phenotype; D013577:Syndrome