syndromic X-linked intellectual disability Lubs type

Findings

No curated finding names syndromic X-linked intellectual disability Lubs type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Inheritance

X-linked recessive inheritance

Onset and course

Progressive · Death in childhood

HPO, annotations 2026-09-02

What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

Where it sits

A kind of

• congenital nervous system disorder
• multiple congenital anomalies/dysmorphic syndrome-intellectual disability
• partial duplication of the long arm of chromosome X
• X-linked syndromic intellectual disability

Narrower terms (1)

• chromosome Xq28 duplication syndrome

Resolves to: syndromic X-linked intellectual disability Lubs type

Also called

distal duplication Xqintellectual developmental disorder, X-linked syndromic, Lubs type, X-linked recessiveintellectual disability, X-linked, syndromic, Lubs typeintellectual disability, X-linked, with recurrent respiratory infectionsLubs X-linked intellectual disability syndromeLubs X-linked mental retardation syndromeMECP2 duplication syndromemental retardation, X-linked, with recurrent respiratory infectionsMRXSLtelomeric duplication XqXq28 (MECP2) duplication