An X-linked syndrome with microcephaly, severe mental retardation, spasticity, epilepsy and deafness.
D002540:Cerebral Cortex / Q000473:pathology; D002648:Child; D003638:Deafness / Q000235:genetics; D004827:Epilepsy / Q000235:genetics; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D008831:Microcephaly / Q000235:genetics* / Q000473:pathology; D009128:Muscle Spasticity / Q000235:genetics; D010375:Pedigree; D013577:Syndrome; D014960:X Chromosome