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Intellectual disability, X-linked 93(XLID93)

MedGen UID:
410164
Concept ID:
C1970841
Disease or Syndrome
Synonyms: MENTAL RETARDATION, X-LINKED, WITH MACROCEPHALY; X-linked intellectual developmental disorder-93; XLID93
 
Gene (location): BRWD3 (Xq21.1)
 
Monarch Initiative: MONDO:0010393
OMIM®: 300659

Definition

Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the BRWD3 gene. [from MONDO]

Clinical features

From HPO
Cryptorchidism
MedGen UID:
8192
Concept ID:
C0010417
Congenital Abnormality
Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the involvement of endocrine, environmental, and hereditary factors. Cryptorchidism can result in infertility and increases risk for testicular tumors. Testicular descent from abdomen to scrotum occurs in 2 distinct phases: the transabdominal phase and the inguinoscrotal phase (summary by Gorlov et al., 2002).
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.
Macrotia
MedGen UID:
488785
Concept ID:
C0152421
Congenital Abnormality
Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective).
Cupped ear
MedGen UID:
335186
Concept ID:
C1845447
Congenital Abnormality
Laterally protruding ear that lacks antihelical folding (including absence of inferior and superior crura).
Intellectual disability, mild
MedGen UID:
10044
Concept ID:
C0026106
Mental or Behavioral Dysfunction
Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69.
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.
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.
Hypotonia
MedGen UID:
10133
Concept ID:
C0026827
Finding
Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
Frontal bossing
MedGen UID:
67453
Concept ID:
C0221354
Congenital Abnormality
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Macrocephaly
MedGen UID:
745757
Concept ID:
C2243051
Finding
Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.
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).
Prominent forehead
MedGen UID:
373291
Concept ID:
C1837260
Finding
Forward prominence of the entire forehead, due to protrusion of the frontal bone.

Professional guidelines

Recent clinical studies

Etiology

Sevin C, Hatteb S, Clément A, Bignami F, Chillotti L, Bugnard F, Bénard S, Boespflug-Tanguy O
Orphanet J Rare Dis 2023 Aug 10;18(1):238. doi: 10.1186/s13023-023-02843-x. PMID: 37563635Free PMC Article
Levin MD, Bianconi S, Smith A, Cawley NX, Do AD, Hammond D, Grafstein JF, Thurm A, Miller J, Perreault J, Noguchi A, Springer D, Kozel BA, Spurney CF, Wassif CA, Yu ZX, Schulze A, Porter FD, Hannah-Shmouni F
Genet Med 2021 Oct;23(10):1864-1872. Epub 2021 May 28 doi: 10.1038/s41436-021-01224-8. PMID: 34050321Free PMC Article
Kühl JS, Kupper J, Baqué H, Ebell W, Gärtner J, Korenke C, Spors B, Steffen IG, Strauss G, Voigt S, Weschke B, Weddige A, Köhler W, Steinfeld R
JAMA Netw Open 2018 Jul 6;1(3):e180769. doi: 10.1001/jamanetworkopen.2018.0769. PMID: 30646031Free PMC Article
Zaffanello M, Maffeis C, Fanos V, Franchini M, Zamboni G
Acta Paediatr 2006 Jul;95(7):785-90. doi: 10.1080/08035250500538957. PMID: 16801172
Parrini E, Ramazzotti A, Dobyns WB, Mei D, Moro F, Veggiotti P, Marini C, Brilstra EH, Dalla Bernardina B, Goodwin L, Bodell A, Jones MC, Nangeroni M, Palmeri S, Said E, Sander JW, Striano P, Takahashi Y, Van Maldergem L, Leonardi G, Wright M, Walsh CA, Guerrini R
Brain 2006 Jul;129(Pt 7):1892-906. Epub 2006 May 9 doi: 10.1093/brain/awl125. PMID: 16684786

Diagnosis

Morales-Romero B, González de Aledo-Castillo JM, Fernández Sierra C, Martínez Carreira C, Zaragoza Bonet C, Fernández Bonifacio R, Caro Miró MA, Argudo-Ramírez A, López Galera RM, García-Villoria J
J Lipid Res 2024 Mar;65(3):100516. Epub 2024 Feb 4 doi: 10.1016/j.jlr.2024.100516. PMID: 38320654Free PMC Article
Sevin C, Hatteb S, Clément A, Bignami F, Chillotti L, Bugnard F, Bénard S, Boespflug-Tanguy O
Orphanet J Rare Dis 2023 Aug 10;18(1):238. doi: 10.1186/s13023-023-02843-x. PMID: 37563635Free PMC Article
Miguet M, Faivre L, Amiel J, Nizon M, Touraine R, Prieur F, Pasquier L, Lefebvre M, Thevenon J, Dubourg C, Julia S, Sarret C, Remerand G, Francannet C, Laffargue F, Boespflug-Tanguy O, David A, Isidor B, Vigneron J, Leheup B, Lambert L, Philippe C, Béri-Dexheimer M, Cuisset JM, Andrieux J, Plessis G, Toutain A, Guibaud L, Cormier-Daire V, Rio M, Bonnefont JP, Echenne B, Journel H, Burglen L, Chantot-Bastaraud S, Bienvenu T, Baumann C, Perrin L, Drunat S, Jouk PS, Dieterich K, Devillard F, Lacombe D, Philip N, Sigaudy S, Moncla A, Missirian C, Badens C, Perreton N, Thauvin-Robinet C, AChro-Puce R, Pedespan JM, Rooryck C, Goizet C, Vincent-Delorme C, Duban-Bedu B, Bahi-Buisson N, Afenjar A, Maincent K, Héron D, Alessandri JL, Martin-Coignard D, Lesca G, Rossi M, Raynaud M, Callier P, Mosca-Boidron AL, Marle N, Coutton C, Satre V, Caignec CL, Malan V, Romana S, Keren B, Tabet AC, Kremer V, Scheidecker S, Vigouroux A, Lackmy-Port-Lis M, Sanlaville D, Till M, Carneiro M, Gilbert-Dussardier B, Willems M, Van Esch H, Portes VD, El Chehadeh S
J Med Genet 2018 Jun;55(6):359-371. Epub 2018 Apr 4 doi: 10.1136/jmedgenet-2017-104956. PMID: 29618507
LaDuca H, Farwell KD, Vuong H, Lu HM, Mu W, Shahmirzadi L, Tang S, Chen J, Bhide S, Chao EC
PLoS One 2017;12(2):e0170843. Epub 2017 Feb 2 doi: 10.1371/journal.pone.0170843. PMID: 28152038Free PMC Article
El Chehadeh S, Faivre L, Mosca-Boidron AL, Malan V, Amiel J, Nizon M, Touraine R, Prieur F, Pasquier L, Callier P, Lefebvre M, Marle N, Dubourg C, Julia S, Sarret C, Francannet C, Laffargue F, Boespflug-Tanguy O, David A, Isidor B, Le Caignec C, Vigneron J, Leheup B, Lambert L, Philippe C, Cuisset JM, Andrieux J, Plessis G, Toutain A, Goldenberg A, Cormier-Daire V, Rio M, Bonnefont JP, Thevenon J, Echenne B, Journel H, Afenjar A, Burglen L, Bienvenu T, Addor MC, Lebon S, Martinet D, Baumann C, Perrin L, Drunat S, Jouk PS, Devillard F, Coutton C, Lacombe D, Delrue MA, Philip N, Moncla A, Badens C, Perreton N, Masurel A, Thauvin-Robinet C, Des Portes V, Guibaud L
Am J Med Genet A 2016 Jan;170A(1):116-29. Epub 2015 Sep 30 doi: 10.1002/ajmg.a.37384. PMID: 26420639

Therapy

Muenzer J, Giugliani R, Scarpa M, Tylki-Szymańska A, Jego V, Beck M
Orphanet J Rare Dis 2017 Oct 3;12(1):161. doi: 10.1186/s13023-017-0712-3. PMID: 28974237Free PMC Article
LaDuca H, Farwell KD, Vuong H, Lu HM, Mu W, Shahmirzadi L, Tang S, Chen J, Bhide S, Chao EC
PLoS One 2017;12(2):e0170843. Epub 2017 Feb 2 doi: 10.1371/journal.pone.0170843. PMID: 28152038Free PMC Article
Kaler SG, Liew CJ, Donsante A, Hicks JD, Sato S, Greenfield JC
J Inherit Metab Dis 2010 Oct;33(5):583-9. Epub 2010 Jul 21 doi: 10.1007/s10545-010-9118-2. PMID: 20652413Free PMC Article
Wémeau JL, Pigeyre M, Proust-Lemoine E, d'Herbomez M, Gottrand F, Jansen J, Visser TJ, Ladsous M
J Clin Endocrinol Metab 2008 Jun;93(6):2084-8. Epub 2008 Mar 11 doi: 10.1210/jc.2007-2719. PMID: 18334584
Zaffanello M, Maffeis C, Fanos V, Franchini M, Zamboni G
Acta Paediatr 2006 Jul;95(7):785-90. doi: 10.1080/08035250500538957. PMID: 16801172

Prognosis

Sevin C, Hatteb S, Clément A, Bignami F, Chillotti L, Bugnard F, Bénard S, Boespflug-Tanguy O
Orphanet J Rare Dis 2023 Aug 10;18(1):238. doi: 10.1186/s13023-023-02843-x. PMID: 37563635Free PMC Article
Steele JL, Morrow MM, Sarnat HB, Alkhunaizi E, Brandt T, Chitayat DA, DeFilippo CP, Douglas GV, Dubbs HA, Elloumi HZ, Glassford MR, Hannibal MC, Héron B, Kim LE, Marco EJ, Mignot C, Monaghan KG, Myers KA, Parikh S, Quinonez SC, Rajabi F, Shankar SP, Shinawi MS, van de Kamp JJP, Veerapandiyan A, Waldman AT, Graf WD
Pediatr Neurol 2022 Jan;126:65-73. Epub 2021 Oct 18 doi: 10.1016/j.pediatrneurol.2021.10.008. PMID: 34740135
Hackeng WM, Brosens LAA, Kim JY, O'Sullivan R, Sung YN, Liu TC, Cao D, Heayn M, Brosnan-Cashman J, An S, Morsink FHM, Heidsma CM, Valk GD, Vriens MR, Nieveen van Dijkum E, Offerhaus GJA, Dreijerink KMA, Zeh H, Zureikat AH, Hogg M, Lee K, Geller D, Marsh JW, Paniccia A, Ongchin M, Pingpank JF, Bahary N, Aijazi M, Brand R, Chennat J, Das R, Fasanella KE, Khalid A, McGrath K, Sarkaria S, Singh H, Slivka A, Nalesnik M, Han X, Nikiforova MN, Lawlor RT, Mafficini A, Rusev B, Corbo V, Luchini C, Bersani S, Pea A, Cingarlini S, Landoni L, Salvia R, Milione M, Milella M, Scarpa A, Hong SM, Heaphy CM, Singhi AD
Gut 2022 May;71(5):961-973. Epub 2021 Apr 13 doi: 10.1136/gutjnl-2020-322595. PMID: 33849943Free PMC Article
LaDuca H, Farwell KD, Vuong H, Lu HM, Mu W, Shahmirzadi L, Tang S, Chen J, Bhide S, Chao EC
PLoS One 2017;12(2):e0170843. Epub 2017 Feb 2 doi: 10.1371/journal.pone.0170843. PMID: 28152038Free PMC Article
Kaler SG, Liew CJ, Donsante A, Hicks JD, Sato S, Greenfield JC
J Inherit Metab Dis 2010 Oct;33(5):583-9. Epub 2010 Jul 21 doi: 10.1007/s10545-010-9118-2. PMID: 20652413Free PMC Article

Clinical prediction guides

Steele JL, Morrow MM, Sarnat HB, Alkhunaizi E, Brandt T, Chitayat DA, DeFilippo CP, Douglas GV, Dubbs HA, Elloumi HZ, Glassford MR, Hannibal MC, Héron B, Kim LE, Marco EJ, Mignot C, Monaghan KG, Myers KA, Parikh S, Quinonez SC, Rajabi F, Shankar SP, Shinawi MS, van de Kamp JJP, Veerapandiyan A, Waldman AT, Graf WD
Pediatr Neurol 2022 Jan;126:65-73. Epub 2021 Oct 18 doi: 10.1016/j.pediatrneurol.2021.10.008. PMID: 34740135
Kühl JS, Kupper J, Baqué H, Ebell W, Gärtner J, Korenke C, Spors B, Steffen IG, Strauss G, Voigt S, Weschke B, Weddige A, Köhler W, Steinfeld R
JAMA Netw Open 2018 Jul 6;1(3):e180769. doi: 10.1001/jamanetworkopen.2018.0769. PMID: 30646031Free PMC Article
Muenzer J, Giugliani R, Scarpa M, Tylki-Szymańska A, Jego V, Beck M
Orphanet J Rare Dis 2017 Oct 3;12(1):161. doi: 10.1186/s13023-017-0712-3. PMID: 28974237Free PMC Article
LaDuca H, Farwell KD, Vuong H, Lu HM, Mu W, Shahmirzadi L, Tang S, Chen J, Bhide S, Chao EC
PLoS One 2017;12(2):e0170843. Epub 2017 Feb 2 doi: 10.1371/journal.pone.0170843. PMID: 28152038Free PMC Article
Kaler SG, Liew CJ, Donsante A, Hicks JD, Sato S, Greenfield JC
J Inherit Metab Dis 2010 Oct;33(5):583-9. Epub 2010 Jul 21 doi: 10.1007/s10545-010-9118-2. PMID: 20652413Free PMC Article

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