Article
A novel syndrome of abnormal striatum and congenital cataract: evidence for linkage to chromosomes 11.
Clinical genetics - 1 Sept 2013
Al-Owain M, Al-Zahrani J, Al-Bakheet A, Abudheim N, Al-Younes B, Aldhalaan H, Al-Zaidan H, Colak D, Almohaileb F, Abouzied M E, Al-Fadhli F, Meyer B, Kaya N
Abstract excerpt
We report a consanguineous family of three girls and one boy affected with a novel syndrome involving the lens and the basal ganglia. The phenotype is strikingly similar between affected siblings with cognitive impairment, attention deficit hyperactivity disorder (ADHD), microcephaly, growth retardation, congenital cataract, and dystonia. The magnetic resonance imaging showed unusual pattern of swelling of the...
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