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Intellectual disability, X-linked 89(XLID89)

MedGen UID:
333247
Concept ID:
C1839082
Mental or Behavioral Dysfunction
Synonyms: MRX89; XLID89
 
Monarch Initiative: MONDO:0010450
OMIM®: 300848

Clinical features

From HPO
Delayed speech and language development
MedGen UID:
105318
Concept ID:
C0454644
Finding
A degree of language development that is significantly below the norm for a child of a specified age.
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
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.
Generalized myoclonic seizure
MedGen UID:
892704
Concept ID:
C4021759
Disease or Syndrome
A generalized myoclonic seizure is a type of generalized motor seizure characterized by bilateral, sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus.

Professional guidelines

PubMed

Cheng H, Du C, Zhang Y, James AF, Dempsey CE, Abdala AP, Hancox JC
J Mol Cell Cardiol 2019 Oct;135:22-30. Epub 2019 Jul 27 doi: 10.1016/j.yjmcc.2019.07.012. PMID: 31362019Free PMC Article
Nizon M, Andrieux J, Rooryck C, de Blois MC, Bourel-Ponchel E, Bourgois B, Boute O, David A, Delobel B, Duban-Bedu B, Giuliano F, Goldenberg A, Grotto S, Héron D, Karmous-Benailly H, Keren B, Lacombe D, Lapierre JM, Le Caignec C, Le Galloudec E, Le Merrer M, Le Moing AG, Mathieu-Dramard M, Nusbaum S, Pichon O, Pinson L, Raoul O, Rio M, Romana S, Roubertie A, Colleaux L, Turleau C, Vekemans M, Nabbout R, Malan V
Am J Med Genet A 2015 Jan;167A(1):111-22. Epub 2014 Nov 25 doi: 10.1002/ajmg.a.36807. PMID: 25425167
Marcus S, Steen AM, Andersson B, Lambert B, Kristoffersson U, Francke U
Hum Genet 1992 Jun;89(4):395-400. doi: 10.1007/BF00194310. PMID: 1618489

Recent clinical studies

Etiology

Shchubelka K, Turova L, Wolfsberger W, Kalanquin K, Williston K, Kurutsa O, Makovetska A, Hasynets Y, Mirutenko V, Vakerych M, Oleksyk TK
J Neurodev Disord 2024 Mar 27;16(1):13. doi: 10.1186/s11689-024-09528-x. PMID: 38539105Free PMC Article
Muenzer J, Burton BK, Amartino HM, Harmatz PR, Gutiérrez-Solana LG, Ruiz-Garcia M, Wu Y, Merberg D, Alexanderian D, Jones SA
Orphanet J Rare Dis 2023 Nov 16;18(1):357. doi: 10.1186/s13023-023-02805-3. PMID: 37974184Free PMC Article
Torres RJ, Puig JG
J Hum Genet 2017 Dec;62(12):1079-1083. Epub 2017 Sep 14 doi: 10.1038/jhg.2017.88. PMID: 28904386
Turk BR, Theisen BE, Nemeth CL, Marx JS, Shi X, Rosen M, Jones RO, Moser AB, Watkins PA, Raymond GV, Tiffany C, Fatemi A
JAMA Neurol 2017 May 1;74(5):519-524. doi: 10.1001/jamaneurol.2016.5715. PMID: 28288261Free PMC Article
Hagerman RJ, Jackson C, Amiri K, Silverman AC, O'Connor R, Sobesky W
Pediatrics 1992 Mar;89(3):395-400. PMID: 1741210

Diagnosis

Shchubelka K, Turova L, Wolfsberger W, Kalanquin K, Williston K, Kurutsa O, Makovetska A, Hasynets Y, Mirutenko V, Vakerych M, Oleksyk TK
J Neurodev Disord 2024 Mar 27;16(1):13. doi: 10.1186/s11689-024-09528-x. PMID: 38539105Free PMC Article
Gruber R, Scholes S, Bertone A, McKinney RA, Orlowski J, Wise MS
Sleep Med 2022 Jan;89:55-59. Epub 2021 Nov 20 doi: 10.1016/j.sleep.2021.11.007. PMID: 34883399
Torres RJ, Puig JG
J Hum Genet 2017 Dec;62(12):1079-1083. Epub 2017 Sep 14 doi: 10.1038/jhg.2017.88. PMID: 28904386
Turk BR, Theisen BE, Nemeth CL, Marx JS, Shi X, Rosen M, Jones RO, Moser AB, Watkins PA, Raymond GV, Tiffany C, Fatemi A
JAMA Neurol 2017 May 1;74(5):519-524. doi: 10.1001/jamaneurol.2016.5715. PMID: 28288261Free PMC Article
Hagerman RJ, Jackson C, Amiri K, Silverman AC, O'Connor R, Sobesky W
Pediatrics 1992 Mar;89(3):395-400. PMID: 1741210

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
DeLuca SC, Wallace DA, Trucks MR, Mukherjee K
BMC Res Notes 2017 Dec 19;10(1):743. doi: 10.1186/s13104-017-3065-z. PMID: 29258560Free PMC Article
Wraith JE, Beck M, Giugliani R, Clarke J, Martin R, Muenzer J; HOS Investigators
Genet Med 2008 Jul;10(7):508-16. doi: 10.1097/gim.0b013e31817701e6. PMID: 18580692
Moser HW, Raymond GV, Lu SE, Muenz LR, Moser AB, Xu J, Jones RO, Loes DJ, Melhem ER, Dubey P, Bezman L, Brereton NH, Odone A
Arch Neurol 2005 Jul;62(7):1073-80. doi: 10.1001/archneur.62.7.1073. PMID: 16009761
des Portes V, Billuart P, Carrié A, Bachner L, Bienvenu T, Vinet MC, Beldjord C, Ponsot G, Kahn A, Boué J, Chelly J
Am J Hum Genet 1997 Apr;60(4):903-9. PMID: 9106537Free PMC Article

Prognosis

Shchubelka K, Turova L, Wolfsberger W, Kalanquin K, Williston K, Kurutsa O, Makovetska A, Hasynets Y, Mirutenko V, Vakerych M, Oleksyk TK
J Neurodev Disord 2024 Mar 27;16(1):13. doi: 10.1186/s11689-024-09528-x. PMID: 38539105Free PMC Article
Turk BR, Theisen BE, Nemeth CL, Marx JS, Shi X, Rosen M, Jones RO, Moser AB, Watkins PA, Raymond GV, Tiffany C, Fatemi A
JAMA Neurol 2017 May 1;74(5):519-524. doi: 10.1001/jamaneurol.2016.5715. PMID: 28288261Free PMC Article
Palmer EE, Leffler M, Rogers C, Shaw M, Carroll R, Earl J, Cheung NW, Champion B, Hu H, Haas SA, Kalscheuer VM, Gecz J, Field M
Clin Genet 2016 Jan;89(1):120-7. Epub 2015 Apr 19 doi: 10.1111/cge.12589. PMID: 25807999
Barboza-Cerda MC, Wong LJ, Martínez-de-Villarreal LE, Zhang VW, Déctor MA
Am J Med Genet A 2014 Jul;164A(7):1642-7. Epub 2014 Apr 3 doi: 10.1002/ajmg.a.36508. PMID: 24700572
DeBrosse SD, Okajima K, Zhang S, Nakouzi G, Schmotzer CL, Lusk-Kopp M, Frohnapfel MB, Grahame G, Kerr DS
Mol Genet Metab 2012 Nov;107(3):394-402. Epub 2012 Sep 7 doi: 10.1016/j.ymgme.2012.09.001. PMID: 23021068

Clinical prediction guides

Shchubelka K, Turova L, Wolfsberger W, Kalanquin K, Williston K, Kurutsa O, Makovetska A, Hasynets Y, Mirutenko V, Vakerych M, Oleksyk TK
J Neurodev Disord 2024 Mar 27;16(1):13. doi: 10.1186/s11689-024-09528-x. PMID: 38539105Free PMC Article
Muenzer J, Burton BK, Amartino HM, Harmatz PR, Gutiérrez-Solana LG, Ruiz-Garcia M, Wu Y, Merberg D, Alexanderian D, Jones SA
Orphanet J Rare Dis 2023 Nov 16;18(1):357. doi: 10.1186/s13023-023-02805-3. PMID: 37974184Free PMC Article
Pehlivan D, Ak M, Glaze DG, Suter B, Motil KJ
Neurogastroenterol Motil 2023 Aug;35(8):e14601. Epub 2023 Apr 30 doi: 10.1111/nmo.14601. PMID: 37122114Free PMC Article
Gruber R, Scholes S, Bertone A, McKinney RA, Orlowski J, Wise MS
Sleep Med 2022 Jan;89:55-59. Epub 2021 Nov 20 doi: 10.1016/j.sleep.2021.11.007. PMID: 34883399
Turk BR, Theisen BE, Nemeth CL, Marx JS, Shi X, Rosen M, Jones RO, Moser AB, Watkins PA, Raymond GV, Tiffany C, Fatemi A
JAMA Neurol 2017 May 1;74(5):519-524. doi: 10.1001/jamaneurol.2016.5715. PMID: 28288261Free PMC Article

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