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Intellectual disability, autosomal recessive 28(MRT28)

MedGen UID:: 482175
•Concept ID:: C3280545
•: Mental or Behavioral Dysfunction

Synonym:	MRT28

Monarch Initiative:	MONDO:0013709
OMIM®:	614347

Clinical features

From HPO

Intellectual disability, moderate

MedGen UID:: 7680
•Concept ID:: C0026351
•: Mental or Behavioral Dysfunction

Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 35-49.

See: Feature record | Search on this feature

Delayed speech and language development

MedGen UID:: 105318
•Concept ID:: C0454644
•: Finding

A degree of language development that is significantly below the norm for a child of a specified age.

See: Feature record | Search on this feature

Motor delay

MedGen UID:: 381392
•Concept ID:: C1854301
•: Finding

A type of Developmental delay characterized by a delay in acquiring motor skills.

See: Feature record | Search on this feature

Microcephaly

MedGen UID:: 1644158
•Concept ID:: C4551563
•: Finding

Head circumference below 2 standard deviations below the mean for age and gender.

See: Feature record | Search on this feature

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Abnormality of the musculoskeletal system
- Microcephaly
Abnormality of the nervous system

Professional guidelines

PubMed

Clinical and genetic characteristics and prenatal diagnosis of patients presented GDD/ID with rare monogenic causes.

Lin L, Zhang Y, Pan H, Wang J, Qi Y, Ma Y
Orphanet J Rare Dis 2020 Nov 11;15(1):317. doi: 10.1186/s13023-020-01599-y. PMID: 33176815 Free PMC Article

Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort.

van Gassen KL, van der Heijden CD, de Bot ST, den Dunnen WF, van den Berg LH, Verschuuren-Bemelmans CC, Kremer HP, Veldink JH, Kamsteeg EJ, Scheffer H, van de Warrenburg BP
Brain 2012 Oct;135(Pt 10):2994-3004. Epub 2012 Sep 10 doi: 10.1093/brain/aws224. PMID: 22964162

Genetic screening for autosomal recessive nonsyndromic mental retardation in an isolated population in Israel.

Basel-Vanagaite L, Taub E, Halpern GJ, Drasinover V, Magal N, Davidov B, Zlotogora J, Shohat M
Eur J Hum Genet 2007 Feb;15(2):250-3. Epub 2006 Dec 6 doi: 10.1038/sj.ejhg.5201750. PMID: 17149387

See all (4)

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

Echaniz-Laguna A, Altuzarra C, Verloes A, De La Banda MGG, Quijano-Roy S, Tudorache RA, Jaxybayeva A, Myrzaliyeva B, Tazir M, Vallat JM, Francou B, Urtizberea JA
Neurogenetics 2021 Oct;22(4):333-341. Epub 2021 Aug 17 doi: 10.1007/s10048-021-00668-z. PMID: 34405299

Patients with Lately Diagnosed Cerebrotendinous Xanthomatosis.

Yunisova G, Tufekcioglu Z, Dogu O, Bilgic B, Kaleagasi H, Akca Kalem S, Lohmann E, Gurvit HI, Emre M, Hanagasi HA
Neurodegener Dis 2019;19(5-6):218-224. Epub 2020 Apr 29 doi: 10.1159/000506770. PMID: 32349000

Autosomal recessive primary microcephaly due to ASPM mutations: An update.

Létard P, Drunat S, Vial Y, Duerinckx S, Ernault A, Amram D, Arpin S, Bertoli M, Busa T, Ceulemans B, Desir J, Doco-Fenzy M, Elalaoui SC, Devriendt K, Faivre L, Francannet C, Geneviève D, Gérard M, Gitiaux C, Julia S, Lebon S, Lubala T, Mathieu-Dramard M, Maurey H, Metreau J, Nasserereddine S, Nizon M, Pierquin G, Pouvreau N, Rivier-Ringenbach C, Rossi M, Schaefer E, Sefiani A, Sigaudy S, Sznajer Y, Tunca Y, Guilmin Crepon S, Alberti C, Elmaleh-Bergès M, Benzacken B, Wollnick B, Woods CG, Rauch A, Abramowicz M, El Ghouzzi V, Gressens P, Verloes A, Passemard S
Hum Mutat 2018 Mar;39(3):319-332. Epub 2018 Jan 16 doi: 10.1002/humu.23381. PMID: 29243349

Clinical implications of de Barsy syndrome.

Warner LL, Olsen DA, Smith HM
Paediatr Anaesth 2018 Jan;28(1):59-62. Epub 2017 Nov 17 doi: 10.1111/pan.13283. PMID: 29148179

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

Clinical and genetic characteristics and prenatal diagnosis of patients presented GDD/ID with rare monogenic causes.

Lin L, Zhang Y, Pan H, Wang J, Qi Y, Ma Y
Orphanet J Rare Dis 2020 Nov 11;15(1):317. doi: 10.1186/s13023-020-01599-y. PMID: 33176815 Free PMC Article

Patients with Lately Diagnosed Cerebrotendinous Xanthomatosis.

Biallelic variants in FBXL3 cause intellectual disability, delayed motor development and short stature.

Ansar M, Paracha SA, Serretti A, Sarwar MT, Khan J, Ranza E, Falconnet E, Iwaszkiewicz J, Shah SF, Qaisar AA, Santoni FA, Zoete V, Megarbane A, Ahmed J, Colombo R, Makrythanasis P, Antonarakis SE
Hum Mol Genet 2019 Mar 15;28(6):972-979. doi: 10.1093/hmg/ddy406. PMID: 30481285 Free PMC Article

EAST/SeSAME syndrome: Review of the literature and introduction of four new Latvian patients.

Celmina M, Micule I, Inashkina I, Audere M, Kuske S, Pereca J, Stavusis J, Pelnena D, Strautmanis J
Clin Genet 2019 Jan;95(1):63-78. Epub 2018 Jul 8 doi: 10.1111/cge.13374. PMID: 29722015

See all (32)

Therapy

Patients with Lately Diagnosed Cerebrotendinous Xanthomatosis.

Mabry Syndrome in a Child of South Asian Descent.

Sohail AH, Durrani MYK, Ibrahim SH, Humayun KN
J Coll Physicians Surg Pak 2018 Sep;28(9):S192-S194. doi: 10.29271/jcpsp.2018.09.S192. PMID: 30173695

IGF1R Variants in Patients With Growth Impairment: Four Novel Variants and Genotype-Phenotype Correlations.

Yang L, Xu DD, Sun CJ, Wu J, Wei HY, Liu Y, Zhang MY, Luo FH
J Clin Endocrinol Metab 2018 Nov 1;103(11):3939-3944. doi: 10.1210/jc.2017-02782. PMID: 30053089

Court orders on procreation.

Matevosyan NR
Arch Gynecol Obstet 2016 Jan;293(1):87-99. Epub 2015 Jun 11 doi: 10.1007/s00404-015-3770-6. PMID: 26063342

Clinical whole exome sequencing in child neurology practice.

Srivastava S, Cohen JS, Vernon H, Barañano K, McClellan R, Jamal L, Naidu S, Fatemi A
Ann Neurol 2014 Oct;76(4):473-83. Epub 2014 Aug 30 doi: 10.1002/ana.24251. PMID: 25131622

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Prognosis

A Homozygous AKNA Frameshift Variant Is Associated with Microcephaly in a Pakistani Family.

Waseem SS, Moawia A, Budde B, Tariq M, Khan A, Ali Z, Khan S, Iqbal M, Malik NA, Haque SU, Altmüller J, Thiele H, Hussain MS, Cirak S, Baig SM, Nürnberg P
Genes (Basel) 2021 Sep 24;12(10) doi: 10.3390/genes12101494. PMID: 34680889 Free PMC Article

Long-term clinical outcome of 6-pyruvoyl-tetrahydropterin synthase-deficient patients.

Manti F, Nardecchia F, Banderali G, Burlina A, Carducci C, Carducci C, Donati MA, Gueraldi D, Paci S, Pochiero F, Porta F, Ortolano R, Rovelli V, Schiaffino MC, Spada M, Blau N, Leuzzi V
Mol Genet Metab 2020 Sep-Oct;131(1-2):155-162. Epub 2020 Jun 24 doi: 10.1016/j.ymgme.2020.06.009. PMID: 32651154

Patients with Lately Diagnosed Cerebrotendinous Xanthomatosis.

Biallelic variants in FBXL3 cause intellectual disability, delayed motor development and short stature.

EAST/SeSAME syndrome: Review of the literature and introduction of four new Latvian patients.

Celmina M, Micule I, Inashkina I, Audere M, Kuske S, Pereca J, Stavusis J, Pelnena D, Strautmanis J
Clin Genet 2019 Jan;95(1):63-78. Epub 2018 Jul 8 doi: 10.1111/cge.13374. PMID: 29722015

See all (15)

Clinical prediction guides

ATP9A deficiency causes ADHD and aberrant endosomal recycling via modulating RAB5 and RAB11 activity.

Meng T, Chen X, He Z, Huang H, Lin S, Liu K, Bai G, Liu H, Xu M, Zhuang H, Zhang Y, Waqas A, Liu Q, Zhang C, Sun XD, Huang H, Umair M, Yan Y, Feng D
Mol Psychiatry 2023 Mar;28(3):1219-1231. Epub 2023 Jan 6 doi: 10.1038/s41380-022-01940-w. PMID: 36604604 Free PMC Article

Long-term clinical outcome of 6-pyruvoyl-tetrahydropterin synthase-deficient patients.

Biallelic variants in FBXL3 cause intellectual disability, delayed motor development and short stature.

Clinical implications of de Barsy syndrome.

Warner LL, Olsen DA, Smith HM
Paediatr Anaesth 2018 Jan;28(1):59-62. Epub 2017 Nov 17 doi: 10.1111/pan.13283. PMID: 29148179

Chromosomal and related Mendelian syndromes associated with Hirschsprung's disease.

Moore SW
Pediatr Surg Int 2012 Nov;28(11):1045-58. Epub 2012 Sep 23 doi: 10.1007/s00383-012-3175-6. PMID: 23001136

See all (21)