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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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature

Professional guidelines

PubMed

Potent hERG channel inhibition by sarizotan, an investigative treatment for Rett Syndrome.
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
Phenotype-genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literature.
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
Mutation analysis and prenatal diagnosis in a Lesch-Nyhan family showing non-random X-inactivation interfering with carrier detection tests.
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

Genetic determinants of global developmental delay and intellectual disability in Ukrainian children.
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
Neurodevelopmental status and adaptive behavior of pediatric patients with mucopolysaccharidosis II: a longitudinal observational study.
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
Skewed X inactivation in Lesch-Nyhan disease carrier females.
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
Antioxidant Capacity and Superoxide Dismutase Activity in Adrenoleukodystrophy.
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
Girls with fragile X syndrome: physical and neurocognitive status and outcome.
Hagerman RJ, Jackson C, Amiri K, Silverman AC, O'Connor R, Sobesky W
Pediatrics 1992 Mar;89(3):395-400. PMID: 1741210

Diagnosis

Genetic determinants of global developmental delay and intellectual disability in Ukrainian children.
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
Sleep and daytime behavior in individuals with Christianson Syndrome.
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
Skewed X inactivation in Lesch-Nyhan disease carrier females.
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
Antioxidant Capacity and Superoxide Dismutase Activity in Adrenoleukodystrophy.
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
Girls with fragile X syndrome: physical and neurocognitive status and outcome.
Hagerman RJ, Jackson C, Amiri K, Silverman AC, O'Connor R, Sobesky W
Pediatrics 1992 Mar;89(3):395-400. PMID: 1741210

Therapy

Effectiveness and safety of the tri-iodothyronine analogue Triac in children and adults with MCT8 deficiency: an international, single-arm, open-label, phase 2 trial.
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
Initial report from the Hunter Outcome Survey.
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
Follow-up of 89 asymptomatic patients with adrenoleukodystrophy treated with Lorenzo's oil.
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
A gene for dominant nonspecific X-linked mental retardation is located in Xq28.
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
Mutation analysis and prenatal diagnosis in a Lesch-Nyhan family showing non-random X-inactivation interfering with carrier detection tests.
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

Prognosis

Genetic determinants of global developmental delay and intellectual disability in Ukrainian children.
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
Antioxidant Capacity and Superoxide Dismutase Activity in Adrenoleukodystrophy.
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
New insights into Brunner syndrome and potential for targeted therapy.
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
A novel EBP c.224T>A mutation supports the existence of a male-specific disorder independent of CDPX2.
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
Brain and spine MRI features of Hunter disease: frequency, natural evolution and response to therapy.
Manara R, Priante E, Grimaldi M, Santoro L, Astarita L, Barone R, Concolino D, Di Rocco M, Donati MA, Fecarotta S, Ficcadenti A, Fiumara A, Furlan F, Giovannini I, Lilliu F, Mardari R, Polonara G, Procopio E, Rampazzo A, Rossi A, Sanna G, Parini R, Scarpa M
J Inherit Metab Dis 2011 Jun;34(3):763-80. Epub 2011 Apr 5 doi: 10.1007/s10545-011-9317-5. PMID: 21465231

Clinical prediction guides

Genetic determinants of global developmental delay and intellectual disability in Ukrainian children.
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
Neurodevelopmental status and adaptive behavior of pediatric patients with mucopolysaccharidosis II: a longitudinal observational study.
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
Exploring gastrointestinal health in MECP2 duplication syndrome.
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
Sleep and daytime behavior in individuals with Christianson Syndrome.
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
Antioxidant Capacity and Superoxide Dismutase Activity in Adrenoleukodystrophy.
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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