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Intellectual disability, autosomal recessive 47(MRT47)

MedGen UID:: 863881
•Concept ID:: C4015444
•: Disease or Syndrome

Synonym:	MRT47

Gene (location): Gene(s) directly associated with this condition or phenotype.	FMN2 (1q43)

Monarch Initiative:	MONDO:0014524
OMIM®:	616193

Definition

Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the FMN2 gene. [from MONDO]

Clinical features

From HPO

Mitral valve prolapse

MedGen UID:: 7671
•Concept ID:: C0026267
•: Disease or Syndrome

One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle.

See: Feature record | Search on this feature

Focal impaired awareness seizure

MedGen UID:: 543022
•Concept ID:: C0270834
•: Disease or Syndrome

Focal impaired awareness seizure (or focal seizure with impaired or lost awareness) is a type of focal-onset seizure characterized by some degree (which may be partial) of impairment of the person's awareness of themselves or their surroundings at any point during the seizure.

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

Global developmental delay

MedGen UID:: 107838
•Concept ID:: C0557874
•: Finding

A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.

See: Feature record | Search on this feature

Poor speech

MedGen UID:: 341172
•Concept ID:: C1848207
•: Finding

See: Feature record | Search on this feature

Intellectual disability

MedGen UID:: 811461
•Concept ID:: C3714756
•: Mental or Behavioral Dysfunction

Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.

See: Feature record | Search on this feature

Generalized hypotonia

MedGen UID:: 346841
•Concept ID:: C1858120
•: Finding

Generalized muscular hypotonia (abnormally low muscle tone).

See: Feature record | Search on this feature

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Abnormality of the cardiovascular system
- Mitral valve prolapse
Abnormality of the musculoskeletal system
- Generalized hypotonia
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

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

Studies of malformation syndromes in man XXXX: multiple congenital anomalies/mental retardation syndrome or variant familial developmental pattern; differential diagnosis and description of the McDonough syndrome (with XXY son from XY/XXY father).

Neuhäuser G, Opitz JM
Z Kinderheilkd 1975 Nov 13;120(4):231-42. doi: 10.1007/BF00440262. PMID: 1189520

See all (3)

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

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

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 and genetic heterogeneity in hereditary spastic paraplegias: from SPG1 to SPG72 and still counting.

Klebe S, Stevanin G, Depienne C
Rev Neurol (Paris) 2015 Jun-Jul;171(6-7):505-30. Epub 2015 May 23 doi: 10.1016/j.neurol.2015.02.017. PMID: 26008818

Rabson-Mendenhall syndrome.

Parveen BA, Sindhuja R
Int J Dermatol 2008 Aug;47(8):839-41. doi: 10.1111/j.1365-4632.2008.03591.x. PMID: 18717867

See all (17)

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

Patterns of neurological manifestations in Woodhouse-Sakati Syndrome.

Clinical and genetic heterogeneity in hereditary spastic paraplegias: from SPG1 to SPG72 and still counting.

Klebe S, Stevanin G, Depienne C
Rev Neurol (Paris) 2015 Jun-Jul;171(6-7):505-30. Epub 2015 May 23 doi: 10.1016/j.neurol.2015.02.017. PMID: 26008818

Rabson-Mendenhall syndrome.

Parveen BA, Sindhuja R
Int J Dermatol 2008 Aug;47(8):839-41. doi: 10.1111/j.1365-4632.2008.03591.x. PMID: 18717867

See all (26)

Therapy

Case study for the evaluation of current treatment recommendations of guanidinoacetate methyltransferase deficiency: ineffectiveness of sodium benzoate.

Mercimek-Mahmutoglu S, Salomons GS, Chan A
Pediatr Neurol 2014 Jul;51(1):133-7. Epub 2014 Feb 21 doi: 10.1016/j.pediatrneurol.2014.02.011. PMID: 24766785

See all (1)

Prognosis

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

Patterns of neurological manifestations in Woodhouse-Sakati Syndrome.

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

Rabson-Mendenhall syndrome.

Parveen BA, Sindhuja R
Int J Dermatol 2008 Aug;47(8):839-41. doi: 10.1111/j.1365-4632.2008.03591.x. PMID: 18717867

Autosomal recessive cerebellar hypoplasia in the Hutterite population.

Glass HC, Boycott KM, Adams C, Barlow K, Scott JN, Chudley AE, Fujiwara TM, Morgan K, Wirrell E, McLeod DR
Dev Med Child Neurol 2005 Oct;47(10):691-5. doi: 10.1017/S0012162205001404. PMID: 16174313

See all (9)

Clinical prediction guides

Whole exome sequencing reveals inherited and de novo variants in autism spectrum disorder: a trio study from Saudi families.

Al-Mubarak B, Abouelhoda M, Omar A, AlDhalaan H, Aldosari M, Nester M, Alshamrani HA, El-Kalioby M, Goljan E, Albar R, Subhani S, Tahir A, Asfahani S, Eskandrani A, Almusaiab A, Magrashi A, Shinwari J, Monies D, Al Tassan N
Sci Rep 2017 Jul 18;7(1):5679. doi: 10.1038/s41598-017-06033-1. PMID: 28720891 Free PMC Article

Giant axonal neuropathy alters the structure of keratin intermediate filaments in human hair.

Soomro A, Alsop RJ, Negishi A, Kreplak L, Fudge D, Kuczmarski ER, Goldman RD, Rheinstädter MC
J R Soc Interface 2017 Apr;14(129) doi: 10.1098/rsif.2017.0123. PMID: 28424304 Free PMC Article

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

Smith-Lemli-Opitz syndrome: Objective assessment of facial phenotype.

Nowaczyk MJ, Tan M, Hamid JS, Allanson JE
Am J Med Genet A 2012 May;158A(5):1020-8. Epub 2012 Mar 21 doi: 10.1002/ajmg.a.35285. PMID: 22438180

Congenital hypothyroidism. Aetiological and clinical aspects.

Mäenpää J
Arch Dis Child 1972 Dec;47(256):914-23. doi: 10.1136/adc.47.256.914. PMID: 4119068 Free PMC Article

See all (10)

MedGen

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Intellectual disability, autosomal recessive 47(MRT47)

Definition

Clinical features

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Practice guidelines

Molecular resources

Consumer resources

Reviews

Related information

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