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Intellectual disability, autosomal recessive 14(MRT14)

MedGen UID:: 462812
•Concept ID:: C3151462
•: Mental or Behavioral Dysfunction

Synonyms:	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 14; MRT14

Gene (location): Gene(s) directly associated with this condition or phenotype.	TECR (19p13.12)

Monarch Initiative:	MONDO:0013528
OMIM®:	614020

Definition

Autosomal recessive intellectual developmental disorder-14 (MRT14) is characterized by developmental delay from birth with mild to moderate impairment of intellectual development. There are no dysmorphic features, and growth parameters and neurologic findings are normal. [from OMIM]

Clinical features

From HPO

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

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

Intention tremor

MedGen UID:: 1642960
•Concept ID:: C4551520
•: Sign or Symptom

A type of kinetic tremor that occurs during target directed movement is called intention tremor. That is, an oscillatory cerebellar ataxia that tends to be absent when the limbs are inactive and during the first part of voluntary movement but worsening as the movement continues and greater precision is required (e.g., in touching a target such as the patient's nose or a physician's finger).

See: Feature record | Search on this feature

Narrow palate

MedGen UID:: 278045
•Concept ID:: C1398312
•: Finding

Width of the palate more than 2 SD below the mean (objective) or apparently decreased palatal width (subjective).

See: Feature record | Search on this feature

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Abnormality of head or neck
- Narrow palate
Abnormality of the nervous system

Professional guidelines

PubMed

Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder.

D'Onofrio G, Accogli A, Severino M, Caliskan H, Kokotović T, Blazekovic A, Jercic KG, Markovic S, Zigman T, Goran K, Barišić N, Duranovic V, Ban A, Borovecki F, Ramadža DP, Barić I, Fazeli W, Herkenrath P, Marini C, Vittorini R, Gowda V, Bouman A, Rocca C, Alkhawaja IA, Murtaza BN, Rehman MMU, Al Alam C, Nader G, Mancardi MM, Giacomini T, Srivastava S, Alvi JR, Tomoum H, Matricardi S, Iacomino M, Riva A, Scala M, Madia F, Pistorio A, Salpietro V, Minetti C, Rivière JB, Srour M, Efthymiou S, Maroofian R, Houlden H, Vernes SC, Zara F, Striano P, Nagy V
Hum Genet 2023 Jul;142(7):909-925. Epub 2023 May 14 doi: 10.1007/s00439-023-02552-2. PMID: 37183190 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

Prospective diagnosis of 2-methylbutyryl-CoA dehydrogenase deficiency in the Hmong population by newborn screening using tandem mass spectrometry.

Matern D, He M, Berry SA, Rinaldo P, Whitley CB, Madsen PP, van Calcar SC, Lussky RC, Andresen BS, Wolff JA, Vockley J
Pediatrics 2003 Jul;112(1 Pt 1):74-8. doi: 10.1542/peds.112.1.74. PMID: 12837870

See all (5)

Recent clinical studies

Etiology

NGLY1 deficiency: a prospective natural history study.

Tong S, Ventola P, Frater CH, Klotz J, Phillips JM, Muppidi S, Dwight SS, Mueller WF, Beahm BJ, Wilsey M, Lee KJ
Hum Mol Genet 2023 Sep 5;32(18):2787-2796. doi: 10.1093/hmg/ddad106. PMID: 37379343 Free PMC Article

Diagnostic yield of whole-exome sequencing in non-syndromic intellectual disability.

Taşkıran EZ, Karaosmanoğlu B, Koşukcu C, Ürel-Demir G, Akgün-Doğan Ö, Şimşek-Kiper PÖ, Alikaşifoğlu M, Boduroğlu K, Utine GE
J Intellect Disabil Res 2021 Jun;65(6):577-588. Epub 2021 Mar 19 doi: 10.1111/jir.12835. PMID: 33739554

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.

Rauch A, Wieczorek D, Graf E, Wieland T, Endele S, Schwarzmayr T, Albrecht B, Bartholdi D, Beygo J, Di Donato N, Dufke A, Cremer K, Hempel M, Horn D, Hoyer J, Joset P, Röpke A, Moog U, Riess A, Thiel CT, Tzschach A, Wiesener A, Wohlleber E, Zweier C, Ekici AB, Zink AM, Rump A, Meisinger C, Grallert H, Sticht H, Schenck A, Engels H, Rappold G, Schröck E, Wieacker P, Riess O, Meitinger T, Reis A, Strom TM
Lancet 2012 Nov 10;380(9854):1674-82. Epub 2012 Sep 27 doi: 10.1016/S0140-6736(12)61480-9. PMID: 23020937

Nijmegen breakage syndrome (NBS).

Chrzanowska KH, Gregorek H, Dembowska-Bagińska B, Kalina MA, Digweed M
Orphanet J Rare Dis 2012 Feb 28;7:13. doi: 10.1186/1750-1172-7-13. PMID: 22373003 Free PMC Article

Genetic influences in autism.

Smalley SL
Psychiatr Clin North Am 1991 Mar;14(1):125-39. PMID: 2047327

See all (52)

Diagnosis

Alopecia-mental retardation syndrome: Molecular genetics of a rare neuro-dermal disorder.

Muzammal M, Ahmad S, Ali MZ, Khan MA
Ann Hum Genet 2021 Sep;85(5):147-154. Epub 2021 Apr 21 doi: 10.1111/ahg.12425. PMID: 33881165

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

Nijmegen breakage syndrome (NBS).

Chrzanowska KH, Gregorek H, Dembowska-Bagińska B, Kalina MA, Digweed M
Orphanet J Rare Dis 2012 Feb 28;7:13. doi: 10.1186/1750-1172-7-13. PMID: 22373003 Free PMC Article

Uniparental disomies 7 and 14.

Hoffmann K, Heller R
Best Pract Res Clin Endocrinol Metab 2011 Feb;25(1):77-100. doi: 10.1016/j.beem.2010.09.004. PMID: 21396576

Genetic influences in autism.

Smalley SL
Psychiatr Clin North Am 1991 Mar;14(1):125-39. PMID: 2047327

See all (80)

Therapy

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

Biallelic mutations in mitochondrial tryptophanyl-tRNA synthetase cause Levodopa-responsive infantile-onset Parkinsonism.

Burke EA, Frucht SJ, Thompson K, Wolfe LA, Yokoyama T, Bertoni M, Huang Y, Sincan M, Adams DR, Taylor RW, Gahl WA, Toro C, Malicdan MCV
Clin Genet 2018 Mar;93(3):712-718. Epub 2018 Feb 5 doi: 10.1111/cge.13172. PMID: 29120065 Free PMC Article

Favorably skewed X-inactivation accounts for neurological sparing in female carriers of Menkes disease.

Desai V, Donsante A, Swoboda KJ, Martensen M, Thompson J, Kaler SG
Clin Genet 2011 Feb;79(2):176-82. doi: 10.1111/j.1399-0004.2010.01451.x. PMID: 20497190 Free PMC Article

Prospective diagnosis of 2-methylbutyryl-CoA dehydrogenase deficiency in the Hmong population by newborn screening using tandem mass spectrometry.

Matern D, He M, Berry SA, Rinaldo P, Whitley CB, Madsen PP, van Calcar SC, Lussky RC, Andresen BS, Wolff JA, Vockley J
Pediatrics 2003 Jul;112(1 Pt 1):74-8. doi: 10.1542/peds.112.1.74. PMID: 12837870

Syndrome of ichthyosis congenita, neurosensory deafness, oligophrenia, dental aplasia, brachydactyly, clinodactyly, accessory cervical ribs and carcinoma of the thyroid.

Ruzicka T, Goerz G, Anton-Lamprecht I
Dermatologica 1981;162(2):124-36. doi: 10.1159/000250259. PMID: 7250456

See all (5)

Prognosis

NGLY1 deficiency: a prospective natural history study.

PIGN encephalopathy: Characterizing the epileptology.

Bayat A, de Valles-Ibáñez G, Pendziwiat M, Knaus A, Alt K, Biamino E, Bley A, Calvert S, Carney P, Caro-Llopis A, Ceulemans B, Cousin J, Davis S, des Portes V, Edery P, England E, Ferreira C, Freeman J, Gener B, Gorce M, Heron D, Hildebrand MS, Jezela-Stanek A, Jouk PS, Keren B, Kloth K, Kluger G, Kuhn M, Lemke JR, Li H, Martinez F, Maxton C, Mefford HC, Merla G, Mierzewska H, Muir A, Monfort S, Nicolai J, Norman J, O'Grady G, Oleksy B, Orellana C, Orec LE, Peinhardt C, Pronicka E, Rosello M, Santos-Simarro F, Schwaibold EMC, Stegmann APA, Stumpel CT, Szczepanik E, Terczyńska I, Thevenon J, Tzschach A, Van Bogaert P, Vittorini R, Walsh S, Weckhuysen S, Weissman B, Wolfe L, Reymond A, De Nittis P, Poduri A, Olson H, Striano P, Lesca G, Scheffer IE, Møller RS, Sadleir LG
Epilepsia 2022 Apr;63(4):974-991. Epub 2022 Feb 18 doi: 10.1111/epi.17173. PMID: 35179230

Alopecia-mental retardation syndrome: Molecular genetics of a rare neuro-dermal disorder.

Muzammal M, Ahmad S, Ali MZ, Khan MA
Ann Hum Genet 2021 Sep;85(5):147-154. Epub 2021 Apr 21 doi: 10.1111/ahg.12425. PMID: 33881165

Patients with Lately Diagnosed Cerebrotendinous Xanthomatosis.

Nijmegen breakage syndrome (NBS).

Chrzanowska KH, Gregorek H, Dembowska-Bagińska B, Kalina MA, Digweed M
Orphanet J Rare Dis 2012 Feb 28;7:13. doi: 10.1186/1750-1172-7-13. PMID: 22373003 Free PMC Article

See all (27)

Clinical prediction guides

Clinical and Molecular Spectrum of Autosomal Recessive CA8-Related Cerebellar Ataxia.

Kaiyrzhanov R, Ortigoza-Escobar JD, Stringer BW, Ganieva M, Gowda VK, Srinivasan VM, Macaya A, Laner A, Onbool E, Al-Shammari R, Al-Owain M, Deconinck N, Vilain C, Dontaine P, Self E, Akram R, Hussain G, Baig SM, Iqbal J, Salpietro V, Neshatdoust M, Kasiri M, Yesil G, Uygur T, Pysden K, Berry IR, Alves CA, Giacomotto J, Houlden H, Maroofian R
Mov Disord 2024 Jun;39(6):983-995. Epub 2024 Apr 6 doi: 10.1002/mds.29754. PMID: 38581205

NGLY1 deficiency: a prospective natural history study.

PIGN encephalopathy: Characterizing the epileptology.

Exome sequencing identifies novel and known mutations in families with intellectual disability.

Rasheed M, Khan V, Harripaul R, Siddiqui M, Malik MA, Ullah Z, Zahid M, Vincent JB, Ansar M
BMC Med Genomics 2021 Aug 27;14(1):211. doi: 10.1186/s12920-021-01066-y. PMID: 34452636 Free PMC Article

Alopecia-mental retardation syndrome: Molecular genetics of a rare neuro-dermal disorder.

Muzammal M, Ahmad S, Ali MZ, Khan MA
Ann Hum Genet 2021 Sep;85(5):147-154. Epub 2021 Apr 21 doi: 10.1111/ahg.12425. PMID: 33881165

See all (46)

Recent systematic reviews

Autosomal Recessive Guanosine Triphosphate Cyclohydrolase I Deficiency: Redefining the Phenotypic Spectrum and Outcomes.

Novelli M, Tolve M, Quiroz V, Carducci C, Bove R, Ricciardi G, Yang K, Manti F, Pisani F, Ebrahimi-Fakhari D, Galosi S, Leuzzi V
Mov Disord Clin Pract 2024 Sep;11(9):1072-1084. Epub 2024 Jul 12 doi: 10.1002/mdc3.14157. PMID: 39001623 Free PMC Article

See all (1)

MedGen

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Intellectual disability, autosomal recessive 14(MRT14)

Definition

Clinical features

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Practice guidelines

Molecular resources

Consumer resources

Reviews

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