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Intellectual developmental disorder, X-linked 108(MRX108)

MedGen UID:
1680544
Concept ID:
C5193009
Disease or Syndrome
Synonym: MENTAL RETARDATION, X-LINKED 108
 
Gene (location): SLC9A7 (Xp11.3)
 
Monarch Initiative: MONDO:0026723
OMIM®: 301024

Clinical features

From HPO
Pes planus
MedGen UID:
42034
Concept ID:
C0016202
Anatomical Abnormality
A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced.
Clinodactyly of the 5th finger
MedGen UID:
340456
Concept ID:
C1850049
Congenital Abnormality
Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).
Delayed ability to walk
MedGen UID:
66034
Concept ID:
C0241726
Finding
A failure to achieve the ability to walk at an appropriate developmental stage. Most children learn to walk in a series of stages, and learn to walk short distances independently between 12 and 15 months.
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.
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.
Generalized hypotonia
MedGen UID:
346841
Concept ID:
C1858120
Finding
Generalized muscular hypotonia (abnormally low muscle tone).
Downslanted palpebral fissures
MedGen UID:
98391
Concept ID:
C0423110
Finding
The palpebral fissure inclination is more than two standard deviations below the mean.
Abnormal facial shape
MedGen UID:
98409
Concept ID:
C0424503
Finding
An abnormal morphology (form) of the face or its components.
Long face
MedGen UID:
324419
Concept ID:
C1836047
Finding
Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective).
Midface retrusion
MedGen UID:
339938
Concept ID:
C1853242
Anatomical Abnormality
Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle.
Long philtrum
MedGen UID:
351278
Concept ID:
C1865014
Finding
Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.
Thin upper lip vermilion
MedGen UID:
355352
Concept ID:
C1865017
Finding
Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective).
High anterior hairline
MedGen UID:
477667
Concept ID:
C3276036
Finding
Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD above the mean. Alternatively, an apparently increased distance between the hairline and the glabella.
Strabismus
MedGen UID:
21337
Concept ID:
C0038379
Disease or Syndrome
A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.
Deeply set eye
MedGen UID:
473112
Concept ID:
C0423224
Finding
An eye that is more deeply recessed into the plane of the face than is typical.

Professional guidelines

PubMed

Bailey DB Jr, Lewis MA, Harris SL, Grant T, Bann C, Bishop E, Roche M, Guarda S, Barnum L, Powell C, Therrell BL Jr
J Genet Couns 2013 Feb;22(1):108-17. Epub 2012 Jun 27 doi: 10.1007/s10897-012-9511-0. PMID: 22736213
Goldstein DS, Holmes CS, Kaler SG
Neurochem Res 2009 Aug;34(8):1464-8. Epub 2009 Feb 21 doi: 10.1007/s11064-009-9933-8. PMID: 19234788Free PMC Article
Stroncek DF, Hubel A, Shankar RA, Burger SR, Pan D, McCullough J, Whitley CB
Transfusion 1999 Apr;39(4):343-50. doi: 10.1046/j.1537-2995.1999.39499235664.x. PMID: 10220258

Recent clinical studies

Etiology

Leonard H, Gold W, Samaco R, Sahin M, Benke T, Downs J
Orphanet J Rare Dis 2022 Mar 4;17(1):108. doi: 10.1186/s13023-022-02240-w. PMID: 35246185Free PMC Article
Raspberry KA, Skinner D
Soc Sci Med 2011 Mar;72(6):992-8. Epub 2011 Feb 3 doi: 10.1016/j.socscimed.2011.01.010. PMID: 21333433Free PMC Article
Demark JL, Feldman MA, Holden JJ
Am J Ment Retard 2003 Sep;108(5):314-26. doi: 10.1352/0895-8017(2003)108<314:BRBAAF>2.0.CO;2. PMID: 12901707
Uzielli ML, Guarducci S, Lapi E, Cecconi A, Ricci U, Ricotti G, Biondi C, Scarselli B, Vieri F, Scarnato P, Gori F, Sereni A
Am J Med Genet 1999 May 28;84(3):300-3. PMID: 10331612
Loesch DZ, Lafranchi M, Scott D
Am J Med Genet 1988 May-Jun;30(1-2):149-64. doi: 10.1002/ajmg.1320300113. PMID: 3177440

Diagnosis

Hashem SI, Murphy AN, Divakaruni AS, Klos ML, Nelson BC, Gault EC, Rowland TJ, Perry CN, Gu Y, Dalton ND, Bradford WH, Devaney EJ, Peterson KL, Jones KL, Taylor MRG, Chen J, Chi NC, Adler ED
J Mol Cell Cardiol 2017 Jul;108:86-94. Epub 2017 May 16 doi: 10.1016/j.yjmcc.2017.05.007. PMID: 28526246
Mak AS, Leung KY
Hong Kong Med J 2017 Apr;23(2):108-9. doi: 10.12809/hkmj175064. PMID: 28387201
Fehr S, Downs J, Ho G, de Klerk N, Forbes D, Christodoulou J, Williams S, Leonard H
Am J Med Genet A 2016 Nov;170(11):2860-2869. Epub 2016 Aug 16 doi: 10.1002/ajmg.a.37851. PMID: 27528505
Visootsak J, Hipp H, Clark H, Berry-Kravis E, Anderson T, Laney D
J Pediatr 2014 Jun;164(6):1292-5. Epub 2014 Mar 6 doi: 10.1016/j.jpeds.2014.01.051. PMID: 24612903Free PMC Article
Jedele KB
Semin Pediatr Neurol 2007 Sep;14(3):108-17. doi: 10.1016/j.spen.2007.07.002. PMID: 17980307

Therapy

Leonard H, Gold W, Samaco R, Sahin M, Benke T, Downs J
Orphanet J Rare Dis 2022 Mar 4;17(1):108. doi: 10.1186/s13023-022-02240-w. PMID: 35246185Free PMC Article
Tanaka H, Amano N, Tanaka K, Katsuki T, Adachi T, Shimozawa N, Kawai T
Endocr J 2020 Jun 29;67(6):655-658. Epub 2020 Feb 26 doi: 10.1507/endocrj.EJ19-0576. PMID: 32101828
Verrotti A, Cusmai R, Darra F, Martelli P, Accorsi P, Bergamo S, Bevivino E, Coppola G, Freri E, Grosso S, Matricardi S, Parisi P, Sartori S, Spalice A, Specchio N, Carelli A, Zini D, Dalla Bernardina B, Giordano L
Epilepsy Res 2014 Nov;108(9):1597-603. Epub 2014 Aug 30 doi: 10.1016/j.eplepsyres.2014.08.006. PMID: 25218893
Fu F, Liu HL, Li R, Han J, Yang X, Min P, Zhen L, Zhang YL, Xie GE, Lei TY, Li Y, Li J, Li DZ, Liao C
Gene 2014 Aug 10;546(2):222-5. Epub 2014 Jun 7 doi: 10.1016/j.gene.2014.06.012. PMID: 24914495
Loesch DZ, Lafranchi M, Scott D
Am J Med Genet 1988 May-Jun;30(1-2):149-64. doi: 10.1002/ajmg.1320300113. PMID: 3177440

Prognosis

Baker EK, Arora S, Amor DJ, Date P, Cross M, O'Brien J, Simons C, Rogers C, Goodall S, Slee J, Cahir C, Godler DE
J Autism Dev Disord 2023 Apr;53(4):1682-1692. Epub 2021 Jul 22 doi: 10.1007/s10803-021-05193-4. PMID: 34292487
Tanaka H, Amano N, Tanaka K, Katsuki T, Adachi T, Shimozawa N, Kawai T
Endocr J 2020 Jun 29;67(6):655-658. Epub 2020 Feb 26 doi: 10.1507/endocrj.EJ19-0576. PMID: 32101828
Iida A, Takano K, Takeshita E, Abe-Hatano C, Hirabayashi S, Inaba Y, Kosugi S, Kamatani Y, Momozawa Y, Kubo M, Nakagawa E, Inoue K, Goto YI
Cold Spring Harb Mol Case Stud 2019 Dec;5(6) Epub 2019 Dec 13 doi: 10.1101/mcs.a003988. PMID: 31444167Free PMC Article
Hatton DD, Hooper SR, Bailey DB, Skinner ML, Sullivan KM, Wheeler A
Am J Med Genet 2002 Mar 1;108(2):105-16. doi: 10.1002/ajmg.10216. PMID: 11857559
Hessl D, Dyer-Friedman J, Glaser B, Wisbeck J, Barajas RG, Taylor A, Reiss AL
Pediatrics 2001 Nov;108(5):E88. doi: 10.1542/peds.108.5.e88. PMID: 11694672

Clinical prediction guides

Baker EK, Arora S, Amor DJ, Date P, Cross M, O'Brien J, Simons C, Rogers C, Goodall S, Slee J, Cahir C, Godler DE
J Autism Dev Disord 2023 Apr;53(4):1682-1692. Epub 2021 Jul 22 doi: 10.1007/s10803-021-05193-4. PMID: 34292487
Iida A, Takano K, Takeshita E, Abe-Hatano C, Hirabayashi S, Inaba Y, Kosugi S, Kamatani Y, Momozawa Y, Kubo M, Nakagawa E, Inoue K, Goto YI
Cold Spring Harb Mol Case Stud 2019 Dec;5(6) Epub 2019 Dec 13 doi: 10.1101/mcs.a003988. PMID: 31444167Free PMC Article
O'Leary HM, Marschik PB, Khwaja OS, Ho E, Barnes KV, Clarkson TW, Bruck NM, Kaufmann WE
Dev Neurorehabil 2017 Feb;20(2):108-114. Epub 2015 Oct 12 doi: 10.3109/17518423.2015.1087437. PMID: 26457613
Ramos HE
Endocr Dev 2014;26:108-17. Epub 2014 Aug 29 doi: 10.1159/000363158. PMID: 25231447
Hatton DD, Hooper SR, Bailey DB, Skinner ML, Sullivan KM, Wheeler A
Am J Med Genet 2002 Mar 1;108(2):105-16. doi: 10.1002/ajmg.10216. PMID: 11857559

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