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Intellectual disability, X-linked 73(XLID73)

MedGen UID:
335293
Concept ID:
C1845860
Mental or Behavioral Dysfunction
Synonyms: MRX73; XLID73
 
Monarch Initiative: MONDO:0010307
OMIM®: 300355

Clinical features

From HPO
Intellectual disability, mild
MedGen UID:
10044
Concept ID:
C0026106
Mental or Behavioral Dysfunction
Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69.
Synophrys
MedGen UID:
98132
Concept ID:
C0431447
Congenital Abnormality
Meeting of the medial eyebrows in the midline.

Professional guidelines

PubMed

Mansour L, El Sobky E, Mohamed SM, Marzouk H, Tarek LA
J Egypt Public Health Assoc 2015 Sep;90(3):133-7. doi: 10.1097/01.EPX.0000469901.73624.7a. PMID: 26544843

Recent clinical studies

Etiology

Schäfer L, Roicke H, Bergner CC, Köhler W
Brain Behav 2023 Mar;13(3):e2878. Epub 2023 Feb 7 doi: 10.1002/brb3.2878. PMID: 36748403Free PMC Article
Lotan D, Salazar-Mendiguchía J, Mogensen J, Rathore F, Anastasakis A, Kaski J, Garcia-Pavia P, Olivotto I, Charron P, Biagini E, Baban A, Limongelli G, Ashram W, Wasserstrum Y, Galvin J, Zorio E, Iacovoni A, Monserrat L, Spirito P, Iascone M, Arad M; Cooperating Investigators‡
Circ Genom Precis Med 2020 Dec;13(6):e003117. Epub 2020 Nov 5 doi: 10.1161/CIRCGEN.120.003117. PMID: 33151750
Pierpont EI, Nascene DR, Shanley R, Kenney-Jung DL, Ziegler RS, Miller WP, Gupta AO, Lund TC, Orchard PJ, Eisengart JB
Neurology 2020 Aug 4;95(5):e591-e600. Epub 2020 Jul 2 doi: 10.1212/WNL.0000000000009929. PMID: 32616675Free PMC Article
Grineski S, Morales DX, Collins T, Wilkes J, Bonkowsky JL
J Pediatr 2020 May;220:193-199. Epub 2020 Mar 3 doi: 10.1016/j.jpeds.2020.01.063. PMID: 32143930Free PMC Article
Liao LH, Chen C, Peng J, Wu LW, He F, Yang LF, Zhang CL, Wang GL, Peng P, Ma YP, Miao P, Yin F
Chin Med J (Engl) 2019 Jul 5;132(13):1533-1540. doi: 10.1097/CM9.0000000000000295. PMID: 31205075Free PMC Article

Diagnosis

Chaves LD, Carvalho LML, Tolezano GC, Pires SF, Costa SS, de Scliar MO, Giuliani LR, Bertola DR, Santos-Rebouças CB, Seo GH, Otto PA, Rosenberg C, Vianna-Morgante AM, Krepischi ACV
Mol Neurobiol 2023 Jul;60(7):3758-3769. Epub 2023 Mar 21 doi: 10.1007/s12035-023-03311-0. PMID: 36943625
Liao LH, Chen C, Peng J, Wu LW, He F, Yang LF, Zhang CL, Wang GL, Peng P, Ma YP, Miao P, Yin F
Chin Med J (Engl) 2019 Jul 5;132(13):1533-1540. doi: 10.1097/CM9.0000000000000295. PMID: 31205075Free PMC Article
Brambatti M, Caspi O, Maolo A, Koshi E, Greenberg B, Taylor MRG, Adler ED
Int J Cardiol 2019 Jul 1;286:92-98. Epub 2019 Feb 16 doi: 10.1016/j.ijcard.2019.01.020. PMID: 30857840
Ropers HH
Curr Opin Genet Dev 2006 Jun;16(3):260-9. Epub 2006 May 2 doi: 10.1016/j.gde.2006.04.017. PMID: 16647850
Ropers HH, Hamel BC
Nat Rev Genet 2005 Jan;6(1):46-57. doi: 10.1038/nrg1501. PMID: 15630421

Therapy

Wadhwa A, Chen Y, Holmqvist A, Wu J, Ness E, Parman M, Kung M, Hageman L, Francisco L, Braunlin E, Miller W, Lund T, Armenian S, Arora M, Orchard P, Bhatia S
Biol Blood Marrow Transplant 2019 Feb;25(2):328-334. Epub 2018 Oct 4 doi: 10.1016/j.bbmt.2018.09.035. PMID: 30292746Free PMC Article
Ahmed MA, Kartha RV, Brundage RC, Cloyd J, Basu C, Carlin BP, Jones RO, Moser AB, Fatemi A, Raymond GV
Br J Clin Pharmacol 2016 Jun;81(6):1058-66. Epub 2016 Apr 3 doi: 10.1111/bcp.12897. PMID: 26836218Free PMC Article
Jiang MY, Cai YN, Liang CL, Peng MZ, Sheng HY, Fan LP, Lin RZ, Jiang H, Huang Y, Liu L
Metab Brain Dis 2015 Dec;30(6):1439-44. Epub 2015 Aug 12 doi: 10.1007/s11011-015-9717-6. PMID: 26260157
Kim JH, Lee BH, Kim YM, Choi JH, Kim GH, Cheon CK, Yoo HW
Metab Brain Dis 2015 Feb;30(1):75-81. Epub 2014 Jun 13 doi: 10.1007/s11011-014-9569-5. PMID: 24919650
Loes DJ, Fatemi A, Melhem ER, Gupte N, Bezman L, Moser HW, Raymond GV
Neurology 2003 Aug 12;61(3):369-74. doi: 10.1212/01.wnl.0000079050.91337.83. PMID: 12913200

Prognosis

Lotan D, Salazar-Mendiguchía J, Mogensen J, Rathore F, Anastasakis A, Kaski J, Garcia-Pavia P, Olivotto I, Charron P, Biagini E, Baban A, Limongelli G, Ashram W, Wasserstrum Y, Galvin J, Zorio E, Iacovoni A, Monserrat L, Spirito P, Iascone M, Arad M; Cooperating Investigators‡
Circ Genom Precis Med 2020 Dec;13(6):e003117. Epub 2020 Nov 5 doi: 10.1161/CIRCGEN.120.003117. PMID: 33151750
Grineski S, Morales DX, Collins T, Wilkes J, Bonkowsky JL
J Pediatr 2020 May;220:193-199. Epub 2020 Mar 3 doi: 10.1016/j.jpeds.2020.01.063. PMID: 32143930Free PMC Article
Operto FF, Mazza R, Pastorino GMG, Verrotti A, Coppola G
Brain Behav 2019 May;9(5):e01250. Epub 2019 Mar 30 doi: 10.1002/brb3.1250. PMID: 30929312Free PMC Article
Kim JH, Lee BH, Kim YM, Choi JH, Kim GH, Cheon CK, Yoo HW
Metab Brain Dis 2015 Feb;30(1):75-81. Epub 2014 Jun 13 doi: 10.1007/s11011-014-9569-5. PMID: 24919650
Ilie A, Weinstein E, Boucher A, McKinney RA, Orlowski J
Neurochem Int 2014 Jul;73:192-203. Epub 2013 Sep 30 doi: 10.1016/j.neuint.2013.09.020. PMID: 24090639

Clinical prediction guides

Chaves LD, Carvalho LML, Tolezano GC, Pires SF, Costa SS, de Scliar MO, Giuliani LR, Bertola DR, Santos-Rebouças CB, Seo GH, Otto PA, Rosenberg C, Vianna-Morgante AM, Krepischi ACV
Mol Neurobiol 2023 Jul;60(7):3758-3769. Epub 2023 Mar 21 doi: 10.1007/s12035-023-03311-0. PMID: 36943625
Lotan D, Salazar-Mendiguchía J, Mogensen J, Rathore F, Anastasakis A, Kaski J, Garcia-Pavia P, Olivotto I, Charron P, Biagini E, Baban A, Limongelli G, Ashram W, Wasserstrum Y, Galvin J, Zorio E, Iacovoni A, Monserrat L, Spirito P, Iascone M, Arad M; Cooperating Investigators‡
Circ Genom Precis Med 2020 Dec;13(6):e003117. Epub 2020 Nov 5 doi: 10.1161/CIRCGEN.120.003117. PMID: 33151750
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
Pierpont EI, Nascene DR, Shanley R, Kenney-Jung DL, Ziegler RS, Miller WP, Gupta AO, Lund TC, Orchard PJ, Eisengart JB
Neurology 2020 Aug 4;95(5):e591-e600. Epub 2020 Jul 2 doi: 10.1212/WNL.0000000000009929. PMID: 32616675Free PMC Article
Mansour L, El Sobky E, Mohamed SM, Marzouk H, Tarek LA
J Egypt Public Health Assoc 2015 Sep;90(3):133-7. doi: 10.1097/01.EPX.0000469901.73624.7a. PMID: 26544843

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