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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).
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.
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.

Professional guidelines

PubMed

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

Recent clinical studies

Etiology

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: 37974207Free PMC Article
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: 36315559Free PMC Article
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
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
Hagerman RJ, Jackson C, Amiri K, Silverman AC, O'Connor R, Sobesky W
Pediatrics 1992 Mar;89(3):395-400. PMID: 1741210

Diagnosis

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

Prognosis

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
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
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
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
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

Clinical prediction guides

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: 36315559Free PMC Article
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
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
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: 30069915Free PMC Article
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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