Syndromic X-linked intellectual disability Lubs type
Syndromic X-linked intellectual disability Lubs type
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.
Also known as distal duplication Xq, intellectual developmental disorder, X-linked syndromic, Lubs type, X-linked recessive, intellectual disability, X-linked, syndromic, Lubs type, intellectual disability, X-linked, with recurrent respiratory infections, Lubs X-linked intellectual disability syndrome, Lubs X-linked mental retardation syndrome, MECP2 duplication syndrome, mental retardation, X-linked, with recurrent respiratory infections, MRXSL, syndromic X-linked intellectual disability Lubs type, telomeric duplication Xq, Xq28 (MECP2) duplication — per MONDO