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Intellectual disability, X-linked 93(XLID93)

MedGen UID:
410164
Concept ID:
C1970841
Disease or Syndrome
Synonyms: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 93; MENTAL RETARDATION, X-LINKED, WITH MACROCEPHALY; 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.
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.
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.
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).
Frontal bossing
MedGen UID:
67453
Concept ID:
C0221354
Congenital Abnormality
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
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.
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.
Cupped ear
MedGen UID:
335186
Concept ID:
C1845447
Congenital Abnormality
Laterally protruding ear that lacks antihelical folding (including absence of inferior and superior crura).
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.
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.

Professional guidelines

Recent clinical studies

Etiology

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
Tenorio J, Alarcón P, Arias P, Ramos FJ, Campistol J, Climent S, García-Miñaur S, Dapía I, Hernández A, Nevado J, Solís M, Ruiz-Pérez VL; Sogri Consortium, Lapunzina P
Clin Genet 2019 Jun;95(6):726-731. Epub 2019 Apr 29 doi: 10.1111/cge.13504. PMID: 30628072
Tsur A, Mayo JA, Wong RJ, Shaw GM, Stevenson DK, Gould JB
J Perinatol 2017 Oct;37(10):1088-1092. Epub 2017 Jul 27 doi: 10.1038/jp.2017.104. PMID: 28749482
Beam D, Poe MD, Provenzale JM, Szabolcs P, Martin PL, Prasad V, Parikh S, Driscoll T, Mukundan S, Kurtzberg J, Escolar ML
Biol Blood Marrow Transplant 2007 Jun;13(6):665-74. Epub 2007 Apr 6 doi: 10.1016/j.bbmt.2007.01.082. PMID: 17531776
Kirk EP, Fletcher JM, Sharp P, Carey B, Poulos A
Am J Med Genet 1998 Apr 13;76(5):420-3. PMID: 9556302

Diagnosis

Liang Q, Liu Y, Liu Y, Duan R, Meng W, Zhan J, Xia J, Mao A, Liang D, Wu L
Clin Chem 2022 Dec 6;68(12):1529-1540. doi: 10.1093/clinchem/hvac154. PMID: 36171182
Au LWC, Chan AYY, Mok VCT
Neurology 2019 Aug 13;93(7):e731-e732. doi: 10.1212/WNL.0000000000007958. PMID: 31405945
Tenorio J, Alarcón P, Arias P, Ramos FJ, Campistol J, Climent S, García-Miñaur S, Dapía I, Hernández A, Nevado J, Solís M, Ruiz-Pérez VL; Sogri Consortium, Lapunzina P
Clin Genet 2019 Jun;95(6):726-731. Epub 2019 Apr 29 doi: 10.1111/cge.13504. PMID: 30628072
Zablotskaya A, Van Esch H, Verstrepen KJ, Froyen G, Vermeesch JR
BMC Med Genomics 2018 Dec 19;11(1):123. doi: 10.1186/s12920-018-0446-7. PMID: 30567555Free 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

Therapy

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
Boggula VR, Shukla A, Danda S, Hariharan SV, Nampoothiri S, Kumar R, Phadke SR
Indian J Med Res 2014 Jan;139(1):66-75. PMID: 24604040Free PMC Article
Beam D, Poe MD, Provenzale JM, Szabolcs P, Martin PL, Prasad V, Parikh S, Driscoll T, Mukundan S, Kurtzberg J, Escolar ML
Biol Blood Marrow Transplant 2007 Jun;13(6):665-74. Epub 2007 Apr 6 doi: 10.1016/j.bbmt.2007.01.082. PMID: 17531776
Zaffanello M, Maffeis C, Fanos V, Franchini M, Zamboni G
Acta Paediatr 2006 Jul;95(7):785-90. doi: 10.1080/08035250500538957. PMID: 16801172
Migeon BR, Axelman J, Beggs AH
Nature 1988 Sep 1;335(6185):93-6. doi: 10.1038/335093a0. PMID: 2457812

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
Beam D, Poe MD, Provenzale JM, Szabolcs P, Martin PL, Prasad V, Parikh S, Driscoll T, Mukundan S, Kurtzberg J, Escolar ML
Biol Blood Marrow Transplant 2007 Jun;13(6):665-74. Epub 2007 Apr 6 doi: 10.1016/j.bbmt.2007.01.082. PMID: 17531776

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
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
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
Piton A, Redin C, Mandel JL
Am J Hum Genet 2013 Aug 8;93(2):368-83. Epub 2013 Jul 18 doi: 10.1016/j.ajhg.2013.06.013. PMID: 23871722Free PMC Article
Beam D, Poe MD, Provenzale JM, Szabolcs P, Martin PL, Prasad V, Parikh S, Driscoll T, Mukundan S, Kurtzberg J, Escolar ML
Biol Blood Marrow Transplant 2007 Jun;13(6):665-74. Epub 2007 Apr 6 doi: 10.1016/j.bbmt.2007.01.082. PMID: 17531776

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