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References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 10-10-2017
Symbol MRXS32
Location Xq28
Name mental retardation, syndromic 32
Corresponding gene CLIC2
Main clinical features profound mental retardation, delayed psychomotor development beginning in infancy and little or no speech development, associated to seizures, large joint contractures, and abnormal positioning of the thumbs
Genetic determination sex linked
Function/system disorder mental retardation
Type MCA/MR
Remark(s)