Contiguous gene syndrome due to a maternally inherited 8.41 Mb distal deletion of chromosome band Xp22.3 in a boy with short stature, ichthyosis, epilepsy, mental retardation, cerebral cortical heterotopias and Dandy-Walker malformation.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002872:Chromosome Deletion; D041321:Chromosomes, Human, X / Q000235:genetics*; D003616:Dandy-Walker Syndrome / Q000235:genetics; D004827:Epilepsy / Q000235:genetics; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D016114:Ichthyosis, X-Linked / Q000235:genetics; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D054220:Malformations of Cortical Development / Q000235:genetics; D010641:Phenotype; D012729:Sex Chromosome Aberrations; D013577:Syndrome; D055815:Young Adult