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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.

See: Feature record | Search on this feature

Abnormality of the nervous system
- Intellectual disability

Recent clinical studies

Etiology

Global developmental delay and intellectual disability in the era of genomics: Diagnosis and challenges in resource limited areas.

Masri AT, Oweis L, Ali M, Hamamy H
Clin Neurol Neurosurg 2023 Jul;230:107799. Epub 2023 May 22 doi: 10.1016/j.clineuro.2023.107799. PMID: 37236004

Dominant monoallelic variant in the PAK2 gene causes Knobloch syndrome type 2.

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

Patterns of neurological manifestations in Woodhouse-Sakati Syndrome.

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

Smith-Lemli-Opitz syndrome: clinical and biochemical correlates.

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

Autism and genetics. A decade of research.

Smalley SL, Asarnow RF, Spence MA
Arch Gen Psychiatry 1988 Oct;45(10):953-61. doi: 10.1001/archpsyc.1988.01800340081013. PMID: 3048227

See all (19)

Diagnosis

Global developmental delay and intellectual disability in the era of genomics: Diagnosis and challenges in resource limited areas.

Masri AT, Oweis L, Ali M, Hamamy H
Clin Neurol Neurosurg 2023 Jul;230:107799. Epub 2023 May 22 doi: 10.1016/j.clineuro.2023.107799. PMID: 37236004

TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition.

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: 35670379 Free PMC Article

Smith-Lemli-Opitz syndrome: clinical and biochemical correlates.

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

Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders.

Reuter MS, Tawamie H, Buchert R, Hosny Gebril O, Froukh T, Thiel C, Uebe S, Ekici AB, Krumbiegel M, Zweier C, Hoyer J, Eberlein K, Bauer J, Scheller U, Strom TM, Hoffjan S, Abdelraouf ER, Meguid NA, Abboud A, Al Khateeb MA, Fakher M, Hamdan S, Ismael A, Muhammad S, Abdallah E, Sticht H, Wieczorek D, Reis A, Abou Jamra R
JAMA Psychiatry 2017 Mar 1;74(3):293-299. doi: 10.1001/jamapsychiatry.2016.3798. PMID: 28097321

Mutations in the human UBR1 gene and the associated phenotypic spectrum.

Sukalo M, Fiedler A, Guzmán C, Spranger S, Addor MC, McHeik JN, Oltra Benavent M, Cobben JM, Gillis LA, Shealy AG, Deshpande C, Bozorgmehr B, Everman DB, Stattin EL, Liebelt J, Keller KM, Bertola DR, van Karnebeek CD, Bergmann C, Liu Z, Düker G, Rezaei N, Alkuraya FS, Oğur G, Alrajoudi A, Venegas-Vega CA, Verbeek NE, Richmond EJ, Kirbiyik O, Ranganath P, Singh A, Godbole K, Ali FA, Alves C, Mayerle J, Lerch MM, Witt H, Zenker M
Hum Mutat 2014 May;35(5):521-31. Epub 2014 Apr 9 doi: 10.1002/humu.22538. PMID: 24599544

See all (34)

Therapy

Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes.

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: 25574841 Free PMC Article

The molecular basis of autosomal recessive diseases among the Arabs and Druze in Israel.

Zlotogora J
Hum Genet 2010 Nov;128(5):473-9. Epub 2010 Sep 18 doi: 10.1007/s00439-010-0890-8. PMID: 20852892

See all (2)

Prognosis

Dominant monoallelic variant in the PAK2 gene causes Knobloch syndrome type 2.

Patterns of neurological manifestations in Woodhouse-Sakati Syndrome.

Woodhouse-Sakati Syndrome: First report of a Portuguese case.

Louro P, Durães J, Oliveira D, Paiva S, Ramos L, Macário MC
Am J Med Genet A 2019 Nov;179(11):2237-2240. Epub 2019 Jul 26 doi: 10.1002/ajmg.a.61303. PMID: 31347785

Smith-Lemli-Opitz syndrome: clinical and biochemical correlates.

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

DOCK6 mutations are responsible for a distinct autosomal-recessive variant of Adams-Oliver syndrome associated with brain and eye anomalies.

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

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Clinical prediction guides

Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals.

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: 37188825 Free PMC Article

TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition.

Dominant monoallelic variant in the PAK2 gene causes Knobloch syndrome type 2.

The molecular basis of autosomal recessive diseases among the Arabs and Druze in Israel.

Zlotogora J
Hum Genet 2010 Nov;128(5):473-9. Epub 2010 Sep 18 doi: 10.1007/s00439-010-0890-8. PMID: 20852892

Autism and genetics. A decade of research.

Smalley SL, Asarnow RF, Spence MA
Arch Gen Psychiatry 1988 Oct;45(10):953-61. doi: 10.1001/archpsyc.1988.01800340081013. PMID: 3048227

See all (23)