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Intellectual disability, X-linked 82(XLID82)

MedGen UID:
337201
Concept ID:
C1845286
Mental or Behavioral Dysfunction
Synonyms: MRX82; XLID82
 
Monarch Initiative: MONDO:0010352
OMIM®: 300518

Clinical features

From HPO
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
EEG abnormality
MedGen UID:
56235
Concept ID:
C0151611
Finding
Abnormality observed by electroencephalogram (EEG), which is used to record of the brain's spontaneous electrical activity from multiple electrodes placed on the scalp.
Autistic behavior
MedGen UID:
163547
Concept ID:
C0856975
Mental or Behavioral Dysfunction
Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Kyphosis
MedGen UID:
44042
Concept ID:
C0022821
Anatomical Abnormality
Exaggerated anterior convexity of the thoracic vertebral column.
Scoliosis
MedGen UID:
11348
Concept ID:
C0036439
Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.

Professional guidelines

PubMed

Hong KN, Eshraghian EA, Arad M, Argirò A, Brambatti M, Bui Q, Caspi O, de Frutos F, Greenberg B, Ho CY, Kaski JP, Olivotto I, Taylor MRG, Yesso A, Garcia-Pavia P, Adler ED
J Am Coll Cardiol 2023 Oct 17;82(16):1628-1647. doi: 10.1016/j.jacc.2023.08.014. PMID: 37821174
Yee KS, Alexanderian D, Merberg D, Natarajan M, Wang S, Wu Y, Whiteman DAH
Mol Genet Metab 2023 Nov;140(3):107652. Epub 2023 Jul 13 doi: 10.1016/j.ymgme.2023.107652. PMID: 37506513
Bessey A, Chilcott JB, Leaviss J, Sutton A
Orphanet J Rare Dis 2018 Oct 11;13(1):179. doi: 10.1186/s13023-018-0921-4. PMID: 30309370Free PMC Article

Recent clinical studies

Etiology

van de Stadt SIW, Schrantee A, Huffnagel IC, van Ballegoij WJC, Caan MWA, Pouwels PJW, Engelen M
Neuroimage Clin 2021;32:102793. Epub 2021 Aug 24 doi: 10.1016/j.nicl.2021.102793. PMID: 34461432Free PMC Article
Ibarluzea N, Hoz AB, Villate O, Llano I, Ocio I, Martí I, Guitart M, Gabau E, Andrade F, Gener B, Tejada MI
Genes (Basel) 2020 Jan 2;11(1) doi: 10.3390/genes11010051. PMID: 31906484Free PMC Article
Marafi D, Suter B, Schultz R, Glaze D, Pavlik VN, Goldman AM
Neurology 2019 Jan 8;92(2):e108-e114. Epub 2018 Dec 14 doi: 10.1212/WNL.0000000000006742. PMID: 30552298Free PMC Article
Rejeb I, Ben Jemaa L, Chaabouni H
Tunis Med 2009 May;87(5):311-8. PMID: 19927760
de Vries BB, van den Ouweland AM, Mohkamsing S, Duivenvoorden HJ, Mol E, Gelsema K, van Rijn M, Halley DJ, Sandkuijl LA, Oostra BA, Tibben A, Niermeijer MF
Am J Hum Genet 1997 Sep;61(3):660-7. doi: 10.1086/515496. PMID: 9326332Free PMC Article

Diagnosis

Hong KN, Eshraghian EA, Arad M, Argirò A, Brambatti M, Bui Q, Caspi O, de Frutos F, Greenberg B, Ho CY, Kaski JP, Olivotto I, Taylor MRG, Yesso A, Garcia-Pavia P, Adler ED
J Am Coll Cardiol 2023 Oct 17;82(16):1628-1647. doi: 10.1016/j.jacc.2023.08.014. PMID: 37821174
Jalnapurkar I, Frazier JA, Roth M, Cochran DM, Foley A, Merk T, Venuti L, Ronco L, Raines S, Cadavid D
J Neurodev Disord 2022 Dec 9;14(1):57. doi: 10.1186/s11689-022-09465-7. PMID: 36494616Free PMC Article
Ibarluzea N, Hoz AB, Villate O, Llano I, Ocio I, Martí I, Guitart M, Gabau E, Andrade F, Gener B, Tejada MI
Genes (Basel) 2020 Jan 2;11(1) doi: 10.3390/genes11010051. PMID: 31906484Free PMC Article
Marafi D, Suter B, Schultz R, Glaze D, Pavlik VN, Goldman AM
Neurology 2019 Jan 8;92(2):e108-e114. Epub 2018 Dec 14 doi: 10.1212/WNL.0000000000006742. PMID: 30552298Free PMC Article
Chiurazzi P, Schwartz CE, Gecz J, Neri G
Eur J Hum Genet 2008 Apr;16(4):422-34. Epub 2008 Jan 16 doi: 10.1038/sj.ejhg.5201994. PMID: 18197188

Therapy

Groeneweg S, Peeters RP, Moran C, Stoupa A, Auriol F, Tonduti D, Dica A, Paone L, Rozenkova K, Malikova J, van der Walt A, de Coo IFM, McGowan A, Lyons G, Aarsen FK, Barca D, van Beynum IM, van der Knoop MM, Jansen J, Manshande M, Lunsing RJ, Nowak S, den Uil CA, Zillikens MC, Visser FE, Vrijmoeth P, de Wit MCY, Wolf NI, Zandstra A, Ambegaonkar G, Singh Y, de Rijke YB, Medici M, Bertini ES, Depoorter S, Lebl J, Cappa M, De Meirleir L, Krude H, Craiu D, Zibordi F, Oliver Petit I, Polak M, Chatterjee K, Visser TJ, Visser WE
Lancet Diabetes Endocrinol 2019 Sep;7(9):695-706. Epub 2019 Jul 31 doi: 10.1016/S2213-8587(19)30155-X. PMID: 31377265Free PMC Article
el-Deiry SS, Naidu S, Blevins LS, Ladenson PW
J Clin Endocrinol Metab 1997 Mar;82(3):856-60. doi: 10.1210/jcem.82.3.3802. PMID: 9062496
Kaplan PW, Tusa RJ, Shankroff J, Heller J, Moser HW
Ann Neurol 1993 Aug;34(2):169-74. doi: 10.1002/ana.410340212. PMID: 8338341

Prognosis

Josahkian JA, Brusius-Facchin AC, Netto ABO, Leistner-Segal S, Málaga DR, Burin MG, Michelin-Tirelli K, Trapp FB, Cardoso-Dos-Santos AC, Ribeiro EM, Kim CA, de Siqueira ACM, Santos ML, do Valle DA, da Silva RTB, Horovitz DDG, de Medeiros PFV, de Souza CFM, Giuliani LR, Miguel DSCG, Santana-da-Silva LC, Galera MF, Giugliani R
Am J Med Genet C Semin Med Genet 2021 Sep;187(3):349-356. Epub 2021 May 7 doi: 10.1002/ajmg.c.31915. PMID: 33960103
Trivisano M, Santarone ME, Micalizzi A, Ferretti A, Dentici ML, Novelli A, Vigevano F, Specchio N
Seizure 2020 Nov;82:1-6. Epub 2020 Sep 22 doi: 10.1016/j.seizure.2020.08.032. PMID: 32977175
Marafi D, Suter B, Schultz R, Glaze D, Pavlik VN, Goldman AM
Neurology 2019 Jan 8;92(2):e108-e114. Epub 2018 Dec 14 doi: 10.1212/WNL.0000000000006742. PMID: 30552298Free PMC Article
Takemoto Y, Suzuki Y, Tamakoshi A, Onodera O, Tsuji S, Hashimoto T, Shimozawa N, Orii T, Kondo N
J Hum Genet 2002;47(11):590-3. doi: 10.1007/s100380200090. PMID: 12436195
Van den Veyver IB, Zoghbi HY
Ment Retard Dev Disabil Res Rev 2002;8(2):82-6. doi: 10.1002/mrdd.10025. PMID: 12112732

Clinical prediction guides

Yee KS, Alexanderian D, Merberg D, Natarajan M, Wang S, Wu Y, Whiteman DAH
Mol Genet Metab 2023 Nov;140(3):107652. Epub 2023 Jul 13 doi: 10.1016/j.ymgme.2023.107652. PMID: 37506513
Josahkian JA, Brusius-Facchin AC, Netto ABO, Leistner-Segal S, Málaga DR, Burin MG, Michelin-Tirelli K, Trapp FB, Cardoso-Dos-Santos AC, Ribeiro EM, Kim CA, de Siqueira ACM, Santos ML, do Valle DA, da Silva RTB, Horovitz DDG, de Medeiros PFV, de Souza CFM, Giuliani LR, Miguel DSCG, Santana-da-Silva LC, Galera MF, Giugliani R
Am J Med Genet C Semin Med Genet 2021 Sep;187(3):349-356. Epub 2021 May 7 doi: 10.1002/ajmg.c.31915. PMID: 33960103
Ibarluzea N, Hoz AB, Villate O, Llano I, Ocio I, Martí I, Guitart M, Gabau E, Andrade F, Gener B, Tejada MI
Genes (Basel) 2020 Jan 2;11(1) doi: 10.3390/genes11010051. PMID: 31906484Free PMC Article
Molinari F, Foulquier F, Tarpey PS, Morelle W, Boissel S, Teague J, Edkins S, Futreal PA, Stratton MR, Turner G, Matthijs G, Gecz J, Munnich A, Colleaux L
Am J Hum Genet 2008 May;82(5):1150-7. Epub 2008 May 1 doi: 10.1016/j.ajhg.2008.03.021. PMID: 18455129Free PMC Article
Van den Veyver IB, Zoghbi HY
Ment Retard Dev Disabil Res Rev 2002;8(2):82-6. doi: 10.1002/mrdd.10025. PMID: 12112732

Recent systematic reviews

Rejeb I, Ben Jemaa L, Chaabouni H
Tunis Med 2009 May;87(5):311-8. PMID: 19927760

Supplemental Content

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