/syndromic X-linked intellectual disability Lubs type

syndromic X-linked intellectual disability Lubs type

Rare Disease

MONDO:0010283

Also Known As

Lubs X-linked intellectual disability syndromeLubs X-linked mental retardation syndromeMECP2 duplication syndromeMRXSLX-linked intellectual disability-hypotonia-recurrent infections syndromeXq28 (MECP2) duplicationdistal duplication Xqintellectual developmental disorder, X-linked syndromic, Lubs type, X-linked recessiveintellectual disability, X-linked, syndromic, Lubs typeintellectual disability, X-linked, with recurrent respiratory infectionsmental retardation, X-linked, syndromic, Lubs typemental retardation, X-linked, with recurrent respiratory infectionssyndromic X-linked intellectual disability Lubs typetelomeric duplication XqLubs X-linked intellectual disability syndrome (formerly)Lubs X-linked mental retardation syndrome (formerly)MECP2 Duplication syndromeXLMR syndrome, Lubs typeintellectual disability, X-linked, Lubs type (formerly)mental retardation, X-linked, Lubs type (formerly)trisomy Xq28

Definition

Distal Xq duplications refer to chromosomal disorders resulting from involvement of the long arm of the X chromosome (Xq). Clinical manifestations vary widely depending on the gender of the patient and on the gene content of the duplicated segment. The prevalence of Xq duplications remains unknown.