Familial congenital cataract, non-progressive neurological disorders and mental deficiency: a new X-linked syndrome?
The association of congenital cataracts, non-progressive spastic paresis and severe mental deficiency in male cousins, whose mothers are similarly though less affected, is reported. In the literature a few observations give rise to comparison, but to the best of our knowledge, an identical case has not been published.
D002386:Cataract / Q000151:congenital / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D009422:Nervous System Diseases / Q000235:genetics*; D010375:Pedigree; D012729:Sex Chromosome Aberrations; D013577:Syndrome; D014960:X Chromosome