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Intellectual disability, X-linked 84(XLID84)

MedGen UID:: 337203
•Concept ID:: C1845297
•: Mental or Behavioral Dysfunction

Synonyms:	MRX84; XLID84

Monarch Initiative:	MONDO:0010347
OMIM®:	300505

Clinical features

From HPO

Short stature

MedGen UID:: 87607
•Concept ID:: C0349588
•: Finding

A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).

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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

Broad forehead

MedGen UID:: 338610
•Concept ID:: C1849089
•: Finding

Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead.

See: Feature record | Search on this feature

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Abnormality of head or neck
- Broad forehead
Abnormality of the nervous system
- Intellectual disability
Growth abnormality
- Short stature

Professional guidelines

PubMed

Laboratory policies and practices for the genetic testing of children: a survey of the Helix network.

Wertz DC, Reilly PR
Am J Hum Genet 1997 Nov;61(5):1163-8. doi: 10.1086/301593. PMID: 9345088 Free PMC Article

See all (1)

Recent clinical studies

Etiology

Next-Generation Sequencing in Unexplained Intellectual Disability.

Sandal S, Verma IC, Mahay SB, Dubey S, Sabharwal RK, Kulshrestha S, Saxena R, Suman P, Kumar P, Puri RD
Indian J Pediatr 2024 Jul;91(7):682-695. Epub 2023 Oct 7 doi: 10.1007/s12098-023-04820-5. PMID: 37804371

Abnormal activation of MAPKs pathways and inhibition of autophagy in a group of patients with Zellweger spectrum disorders and X-linked adrenoleukodystrophy.

Gragnaniello V, Gueraldi D, Puma A, Commone A, Cazzorla C, Loro C, Porcù E, Stornaiuolo M, Miglioranza P, Salviati L, Wanders RJA, Burlina A
Orphanet J Rare Dis 2023 Nov 16;18(1):358. doi: 10.1186/s13023-023-02940-x. PMID: 37974207 Free PMC Article

Dp71 and intellectual disability in Indonesian patients with Duchenne muscular dystrophy.

Iskandar K, Triono A, Sunartini, Dwianingsih EK, Indraswari BW, Kirana IR, Ivana G, Sutomo R, Patria SY, Herini ES, Gunadi
PLoS One 2022;17(10):e0276640. Epub 2022 Oct 31 doi: 10.1371/journal.pone.0276640. PMID: 36315559 Free PMC Article

Cardiac Transplantation in Danon Disease.

Hong KN, Battikha C, John S, Lin A, Bui QM, Brambatti M, Storm G, Boynton K, Medina-Hernandez D, Garcia-Alvarez A, Castel MA, Garcia-Guereta L, Diez Lopez C, Perez-Gomez L, Miani D, Symanski JD, Taylor MR, Garcia-Pavia P, Adler ED
J Card Fail 2022 Apr;28(4):664-669. Epub 2021 Nov 11 doi: 10.1016/j.cardfail.2021.11.007. PMID: 34775111

Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability.

Callier P, Aral B, Hanna N, Lambert S, Dindy H, Ragon C, Payet M, Collod-Beroud G, Carmignac V, Delrue MA, Goizet C, Philip N, Busa T, Dulac Y, Missotte I, Sznajer Y, Toutain A, Francannet C, Megarbane A, Julia S, Edouard T, Sarda P, Amiel J, Lyonnet S, Cormier-Daire V, Gilbert B, Jacquette A, Heron D, Collignon P, Lacombe D, Morice-Picard F, Jouk PS, Cusin V, Willems M, Sarrazin E, Amarof K, Coubes C, Addor MC, Journel H, Colin E, Khau Van Kien P, Baumann C, Leheup B, Martin-Coignard D, Doco-Fenzy M, Goldenberg A, Plessis G, Thevenon J, Pasquier L, Odent S, Vabres P, Huet F, Marle N, Mosca-Boidron AL, Mugneret F, Gauthier S, Binquet C, Thauvin-Robinet C, Jondeau G, Boileau C, Faivre L
Clin Genet 2013 Dec;84(6):507-21. Epub 2013 Mar 18 doi: 10.1111/cge.12094. PMID: 23506379

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Diagnosis

Next-Generation Sequencing in Unexplained Intellectual Disability.

Cardiac Transplantation in Danon Disease.

Spectrum of neuro-genetic disorders in the United Arab Emirates national population.

Saleh S, Beyyumi E, Al Kaabi A, Hertecant J, Barakat D, Al Dhaheri NS, Al-Gazali L, Al Shamsi A
Clin Genet 2021 Nov;100(5):573-600. Epub 2021 Aug 19 doi: 10.1111/cge.14044. PMID: 34374989

Pathogenic or not? Assessing the clinical relevance of copy number variants.

Hehir-Kwa JY, Pfundt R, Veltman JA, de Leeuw N
Clin Genet 2013 Nov;84(5):415-21. Epub 2013 Aug 21 doi: 10.1111/cge.12242. PMID: 23895381

Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability.

See all (22)

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: 31377265 Free PMC Article

Beneficial effects of propylthiouracil plus L-thyroxine treatment in a patient with a mutation in MCT8.

Wémeau JL, Pigeyre M, Proust-Lemoine E, d'Herbomez M, Gottrand F, Jansen J, Visser TJ, Ladsous M
J Clin Endocrinol Metab 2008 Jun;93(6):2084-8. Epub 2008 Mar 11 doi: 10.1210/jc.2007-2719. PMID: 18334584

Adrenal steroids in adrenomyeloneuropathy. Dehydroepiandrosterone sulfate, androstenedione and 17alpha-hydroxyprogesterone.

Wichers-Rother M, Grigull A, Sokolowski P, Stoffel-Wagner B, Köhler W
J Neurol 2005 Dec;252(12):1525-9. doi: 10.1007/s00415-005-0908-7. PMID: 16362829

Elongation of very long-chain fatty acids is enhanced in X-linked adrenoleukodystrophy.

Kemp S, Valianpour F, Denis S, Ofman R, Sanders RJ, Mooyer P, Barth PG, Wanders RJ
Mol Genet Metab 2005 Feb;84(2):144-51. doi: 10.1016/j.ymgme.2004.09.015. PMID: 15670720

Thrombocytopenia induced by erucic acid therapy in patients with X-linked adrenoleukodystrophy.

Zierz S, Schröder R, Unkrig CJ
Clin Investig 1993 Oct;71(10):802-5. doi: 10.1007/BF00190322. PMID: 8305837

See all (5)

Prognosis

Maternal mosaicism for a missense variant in the SMS gene that causes Snyder-Robinson syndrome.

Marhabaie M, Hickey SE, Miller K, Grischow O, Schieffer KM, Franklin SJ, Gordon DM, Choi S, Mihalic Mosher T, White P, Koboldt DC, Wilson RK
Cold Spring Harb Mol Case Stud 2021 Dec;7(6) Epub 2021 Dec 9 doi: 10.1101/mcs.a006122. PMID: 34667072 Free PMC Article

Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder.

Frints SGM, Ozanturk A, Rodríguez Criado G, Grasshoff U, de Hoon B, Field M, Manouvrier-Hanu S, E Hickey S, Kammoun M, Gripp KW, Bauer C, Schroeder C, Toutain A, Mihalic Mosher T, Kelly BJ, White P, Dufke A, Rentmeester E, Moon S, Koboldt DC, van Roozendaal KEP, Hu H, Haas SA, Ropers HH, Murray L, Haan E, Shaw M, Carroll R, Friend K, Liebelt J, Hobson L, De Rademaeker M, Geraedts J, Fryns JP, Vermeesch J, Raynaud M, Riess O, Gribnau J, Katsanis N, Devriendt K, Bauer P, Gecz J, Golzio C, Gontan C, Kalscheuer VM
Mol Psychiatry 2019 Nov;24(11):1748-1768. Epub 2018 May 4 doi: 10.1038/s41380-018-0065-x. PMID: 29728705

Functional assessment of creatine transporter in control and X-linked SLC6A8-deficient fibroblasts.

Joncquel-Chevalier Curt M, Bout MA, Fontaine M, Kim I, Huet G, Bekri S, Morin G, Moortgat S, Moerman A, Cuisset JM, Cheillan D, Vamecq J
Mol Genet Metab 2018 Apr;123(4):463-471. Epub 2018 Feb 16 doi: 10.1016/j.ymgme.2018.02.010. PMID: 29478817

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

Epidemiology of X-linked adrenoleukodystrophy in Japan.

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

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Clinical prediction guides

Next-Generation Sequencing in Unexplained Intellectual Disability.

Dp71 and intellectual disability in Indonesian patients with Duchenne muscular dystrophy.

Comparison of clinical and genetic characteristics between Dent disease 1 and Dent disease 2.

Sakakibara N, Nagano C, Ishiko S, Horinouchi T, Yamamura T, Minamikawa S, Shima Y, Nakanishi K, Ishimori S, Morisada N, Iijima K, Nozu K
Pediatr Nephrol 2020 Dec;35(12):2319-2326. Epub 2020 Jul 18 doi: 10.1007/s00467-020-04701-5. PMID: 32683654

Dendrimer-N-acetyl-L-cysteine modulates monophagocytic response in adrenoleukodystrophy.

Turk BR, Nemeth CL, Marx JS, Tiffany C, Jones R, Theisen B, Kambhampati S, Ramireddy R, Singh S, Rosen M, Kaufman ML, Murray CF, Watkins PA, Kannan S, Kannan R, Fatemi A
Ann Neurol 2018 Sep;84(3):452-462. doi: 10.1002/ana.25303. PMID: 30069915 Free PMC Article

Synaptic dysfunction in amygdala in intellectual disorder models.

Aincy M, Meziane H, Herault Y, Humeau Y
Prog Neuropsychopharmacol Biol Psychiatry 2018 Jun 8;84(Pt B):392-397. Epub 2017 Aug 1 doi: 10.1016/j.pnpbp.2017.07.028. PMID: 28774568

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MedGen

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Intellectual disability, X-linked 84(XLID84)

Clinical features

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

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Table of contents

Clinical resources

Practice guidelines

Molecular resources

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