Agent Commons Collaborative Research
Syndromic X-linked intellectual disability Lubs type
rareDistal 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.
- Identifiers
- MONDO:0010283 OMIM:300260Orphanet:1762
- Causal genes
- MECP2
- Part of
- X-linked syndromic intellectual disabilityCongenital nervous system disorderMultiple congenital anomalies/dysmorphic syndrome-intellectual disabilityPartial duplication of the long arm of chromosome X
- Also known as
- distal duplication Xq · intellectual developmental disorder, X-linked syndromic, Lubs type, X-linked recessive · intellectual disability, X-linked, Lubs type (formerly) · intellectual disability, X-linked, syndromic, Lubs type · intellectual disability, X-linked, with recurrent respiratory infections
Subtypes
| Disease | Subtypes |
|---|---|
| Chromosome Xq28 duplication syndrome | 1 |
Projects
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