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X-linked syndromic intellectual disability

MedGen UID:
832995
•Concept ID:
CN228426
•
Disease or Syndrome
Synonyms: Intellectual developmental disorder, X-linked syndromic; X-linked mental retardation, syndromic
 
Monarch Initiative: MONDO:0020119
OMIM® Phenotypic series: PS309510

Definition

A syndromic intellectual disability with an X-linked mode of inheritance. [from MONDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Multidisciplinary Management of Rett Syndrome: Twenty Years' Experience.
Vilvarajan S, McDonald M, Douglas L, Newham J, Kirkland R, Tzannes G, Tay D, Christodoulou J, Thompson S, Ellaway C
Genes (Basel) 2023 Aug 11;14(8) doi: 10.3390/genes14081607. PMID: 37628658Free PMC Article
Mucopolysaccharidosis Type II: One Hundred Years of Research, Diagnosis, and Treatment.
D'Avanzo F, Rigon L, Zanetti A, Tomanin R
Int J Mol Sci 2020 Feb 13;21(4) doi: 10.3390/ijms21041258. PMID: 32070051Free PMC Article
A systematic review and evidence-based guideline for diagnosis and treatment of Menkes disease.
Vairo FPE, Chwal BC, Perini S, Ferreira MAP, de Freitas Lopes AC, Saute JAM
Mol Genet Metab 2019 Jan;126(1):6-13. Epub 2018 Dec 11 doi: 10.1016/j.ymgme.2018.12.005. PMID: 30594472

Recent clinical studies

Prognosis

The complete loss of function of the SMS gene results in a severe form of Snyder-Robinson syndrome.
Larcher L, Norris JW, Lejeune E, Buratti J, Mignot C, Garel C, Keren B, Schwartz CE, Whalen S
Eur J Med Genet 2020 Apr;63(4):103777. Epub 2019 Sep 30 doi: 10.1016/j.ejmg.2019.103777. PMID: 31580924
A new CUL4B variant associated with a mild phenotype and an exceptional pattern of leukoencephalopathy.
Weissbach S, Reinert MC, Altmüller J, Krätzner R, Thiele H, Rosenbaum T, Nürnberg P, Gärtner J
Am J Med Genet A 2017 Oct;173(10):2803-2807. Epub 2017 Aug 17 doi: 10.1002/ajmg.a.38390. PMID: 28817236

Clinical prediction guides

A microdeletion at Xq22.2 implicates a glycine receptor GLRA4 involved in intellectual disability, behavioral problems and craniofacial anomalies.
Labonne JD, Graves TD, Shen Y, Jones JR, Kong IK, Layman LC, Kim HG
BMC Neurol 2016 Aug 9;16:132. doi: 10.1186/s12883-016-0642-z. PMID: 27506666Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

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