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Intellectual disability, autosomal recessive 31(MRT31)

MedGen UID:
482153
Concept ID:
C3280523
Mental or Behavioral Dysfunction
Synonym: MRT31
 
Monarch Initiative: MONDO:0013694
OMIM®: 614329

Clinical features

From HPO
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.

Recent clinical studies

Therapy

Yuan B, Pehlivan D, Karaca E, Patel N, Charng WL, Gambin T, Gonzaga-Jauregui C, Sutton VR, Yesil G, Bozdogan ST, Tos T, Koparir A, Koparir E, Beck CR, Gu S, Aslan H, Yuregir OO, Al Rubeaan K, Alnaqeb D, Alshammari MJ, Bayram Y, Atik MM, Aydin H, Geckinli BB, Seven M, Ulucan H, Fenercioglu E, Ozen M, Jhangiani S, Muzny DM, Boerwinkle E, Tuysuz B, Alkuraya FS, Gibbs RA, Lupski JR
J Clin Invest 2015 Feb;125(2):636-51. Epub 2015 Jan 9 doi: 10.1172/JCI77435. PMID: 25574841Free PMC Article
Zlotogora J
Hum Genet 2010 Nov;128(5):473-9. Epub 2010 Sep 18 doi: 10.1007/s00439-010-0890-8. PMID: 20852892

Prognosis

Antonarakis SE, Holoubek A, Rapti M, Rademaker J, Meylan J, Iwaszkiewicz J, Zoete V, Wilson C, Taylor J, Ansar M, Borel C, Menzel O, Kuželová K, Santoni FA
Hum Mol Genet 2021 Dec 17;31(1):1-9. doi: 10.1093/hmg/ddab026. PMID: 33693784
Bohlega S, Abusrair AH, Al-Ajlan FS, Alharbi N, Al-Semari A, Bohlega B, Abualsaud D, Alkuraya F
Parkinsonism Relat Disord 2019 Dec;69:99-103. Epub 2019 Oct 13 doi: 10.1016/j.parkreldis.2019.10.007. PMID: 31726291
Donoghue SE, Pitt JJ, Boneh A, White SM
J Pediatr Endocrinol Metab 2018 Mar 28;31(4):451-459. doi: 10.1515/jpem-2017-0501. PMID: 29455191
Mumtaz S, Yıldız E, Jabeen S, Khan A, Tolun A, Malik S
Am J Med Genet A 2015 Dec;167A(12):3148-52. Epub 2015 Sep 3 doi: 10.1002/ajmg.a.37299. PMID: 26333564
Sukalo M, Tilsen F, Kayserili H, Müller D, Tüysüz B, Ruddy DM, Wakeling E, Ørstavik KH, Snape KM, Trembath R, De Smedt M, van der Aa N, Skalej M, Mundlos S, Wuyts W, Southgate L, Zenker M
Hum Mutat 2015 Jun;36(6):593-8. Epub 2015 Apr 21 doi: 10.1002/humu.22795. PMID: 25824905

Clinical prediction guides

Shchelochkov OA, Farmer CA, Chlebowski C, Adedipe D, Ferry S, Manoli I, Pass A, McCoy S, Van Ryzin C, Sloan J, Thurm A, Venditti CP
Mol Psychiatry 2024 Apr;29(4):974-981. Epub 2024 Jan 11 doi: 10.1038/s41380-023-02385-5. PMID: 38200289Free PMC Article
Sczakiel HL, Zhao M, Wollert-Wulf B, Danyel M, Ehmke N, Stoltenburg C, Damseh N, Al-Ashhab M, Balci TB, Osmond M, Andrade A, Schallner J, Porrmann J, McDonald K, Liao M, Oppermann H, Platzer K, Dierksen N, Mojarrad M, Eslahi A, Bakaeean B, Calame DG, Lupski JR, Firoozfar Z, Seyedhassani SM, Mohammadi SA, Anwaar N, Rahman F, Seelow D, Janz M, Horn D, Maroofian R, Boschann F
Eur J Hum Genet 2023 Aug;31(8):905-917. Epub 2023 May 15 doi: 10.1038/s41431-023-01382-0. PMID: 37188825Free PMC Article
Musante L, Faletra F, Meier K, Tomoum H, Najarzadeh Torbati P, Blair E, North S, Gärtner J, Diegmann S, Beiraghi Toosi M, Ashrafzadeh F, Ghayoor Karimiani E, Murphy D, Murru FM, Zanus C, Magnolato A, La Bianca M, Feresin A, Girotto G, Gasparini P, Costa P, Carrozzi M
Am J Med Genet A 2022 Sep;188(9):2652-2665. Epub 2022 Jun 7 doi: 10.1002/ajmg.a.62852. PMID: 35670379Free PMC Article
Zlotogora J
Hum Genet 2010 Nov;128(5):473-9. Epub 2010 Sep 18 doi: 10.1007/s00439-010-0890-8. PMID: 20852892
Smalley SL, Asarnow RF, Spence MA
Arch Gen Psychiatry 1988 Oct;45(10):953-61. doi: 10.1001/archpsyc.1988.01800340081013. PMID: 3048227

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