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Intellectual disability, X-linked 72(XLID72)

MedGen UID:
375793
Concept ID:
C1846038
Mental or Behavioral Dysfunction
Synonyms: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 72; XLID72
 
Gene (location): RAB39B (Xq28)
 
Monarch Initiative: MONDO:0010289
OMIM®: 300271

Clinical features

From HPO
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Motor stereotypies
MedGen UID:
21318
Concept ID:
C0038271
Individual Behavior
Use of the same abnormal action in response to certain triggers or at random. They may be used as a way to regulate one's internal state but must otherwise have no apparent functional purpose.
Hyperactivity
MedGen UID:
98406
Concept ID:
C0424295
Finding
Hyperactivity is a condition characterized by constant and unusually high levels of activity, even in situations where it is deemed inappropriate.
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.
Autistic behavior
MedGen UID:
163547
Concept ID:
C0856975
Mental or Behavioral Dysfunction
Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior.
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.
Dolichocephaly
MedGen UID:
65142
Concept ID:
C0221358
Congenital Abnormality
An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture.
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).

Professional guidelines

PubMed

Pitts L, White JM, Ladores S, Wilson CM
J Pediatr Nurs 2023 Sep-Oct;72:e53-e70. Epub 2023 Jun 16 doi: 10.1016/j.pedn.2023.06.005. PMID: 37331834
Scarpa M, Almássy Z, Beck M, Bodamer O, Bruce IA, De Meirleir L, Guffon N, Guillén-Navarro E, Hensman P, Jones S, Kamin W, Kampmann C, Lampe C, Lavery CA, Teles EL, Link B, Lund AM, Malm G, Pitz S, Rothera M, Stewart C, Tylki-Szymańska A, van der Ploeg A, Walker R, Zeman J, Wraith JE; Hunter Syndrome Europena Expert Council
Orphanet J Rare Dis 2011 Nov 7;6:72. doi: 10.1186/1750-1172-6-72. PMID: 22059643Free PMC Article
Sullivan SD, Welt C, Sherman S
Semin Reprod Med 2011 Jul;29(4):299-307. Epub 2011 Oct 3 doi: 10.1055/s-0031-1280915. PMID: 21969264

Recent clinical studies

Etiology

Pitts L, White JM, Ladores S, Wilson CM
J Pediatr Nurs 2023 Sep-Oct;72:e53-e70. Epub 2023 Jun 16 doi: 10.1016/j.pedn.2023.06.005. PMID: 37331834
Passi GR, Pandey S, Devi ARR, Konanki R, Jain AR, Bhatnagar S, Tripathi R, Jain V
Brain Dev 2022 Apr;44(4):271-280. Epub 2021 Dec 30 doi: 10.1016/j.braindev.2021.12.004. PMID: 34974949
Kim MY, Kim JH, Cho MH, Choi YH, Kim SH, Im YJ, Park K, Kang HG, Chae JH, Cheong HI
J Korean Med Sci 2019 Jan 7;34(1):e4. Epub 2018 Dec 26 doi: 10.3346/jkms.2019.34.e4. PMID: 30618512Free PMC Article
Lower K, Mangelsdorf M, Gecz J
Expert Rev Mol Diagn 2001 Jul;1(2):220-5. doi: 10.1586/14737159.1.2.220. PMID: 11901817
Castellví-Bel S, Milà M
Mol Genet Metab 2001 Feb;72(2):104-8. doi: 10.1006/mgme.2000.3128. PMID: 11161835

Diagnosis

Chuang CK, Tu YR, Lee CL, Lo YT, Chang YH, Liu MY, Liu HY, Chen HJ, Kao SM, Wang LY, Ho HJ, Lin HY, Lin SP
Int J Mol Sci 2022 Sep 1;23(17) doi: 10.3390/ijms23179979. PMID: 36077388Free PMC Article
Hatch HAM, O'Neil MH, Marion RW, Secombe J, Shulman LH
Am J Med Genet A 2021 Oct;185(10):2951-2958. Epub 2021 Jun 4 doi: 10.1002/ajmg.a.62381. PMID: 34089235Free PMC Article
Lotan D, Salazar-Mendiguchía J, Mogensen J, Rathore F, Anastasakis A, Kaski J, Garcia-Pavia P, Olivotto I, Charron P, Biagini E, Baban A, Limongelli G, Ashram W, Wasserstrum Y, Galvin J, Zorio E, Iacovoni A, Monserrat L, Spirito P, Iascone M, Arad M; Cooperating Investigators‡
Circ Genom Precis Med 2020 Dec;13(6):e003117. Epub 2020 Nov 5 doi: 10.1161/CIRCGEN.120.003117. PMID: 33151750
Neri G, Schwartz CE, Lubs HA, Stevenson RE
Am J Med Genet A 2018 Jun;176(6):1375-1388. Epub 2018 Apr 25 doi: 10.1002/ajmg.a.38710. PMID: 29696803Free PMC Article
Lower K, Mangelsdorf M, Gecz J
Expert Rev Mol Diagn 2001 Jul;1(2):220-5. doi: 10.1586/14737159.1.2.220. PMID: 11901817

Therapy

van Geest FS, Groeneweg S, van den Akker ELT, Bacos I, Barca D, van den Berg SAA, Bertini E, Brunner D, Brunetti-Pierri N, Cappa M, Cappuccio G, Chatterjee K, Chesover AD, Christian P, Coutant R, Craiu D, Crock P, Dewey C, Dica A, Dimitri P, Dubey R, Enderli A, Fairchild J, Gallichan J, Garibaldi LR, George B, Hackenberg A, Heinrich B, Huynh T, Kłosowska A, Lawson-Yuen A, Linder-Lucht M, Lyons G, Monti Lora F, Moran C, Müller KE, Paone L, Paul PG, Polak M, Porta F, Reinauer C, de Rijke YB, Seckold R, Menevşe TS, Simm P, Simon A, Spada M, Stoupa A, Szeifert L, Tonduti D, van Toor H, Turan S, Vanderniet J, de Waart M, van der Wal R, van der Walt A, van Wermeskerken AM, Wierzba J, Zibordi F, Zung A, Peeters RP, Visser WE
J Clin Endocrinol Metab 2022 Feb 17;107(3):e1136-e1147. doi: 10.1210/clinem/dgab750. PMID: 34679181Free PMC Article
Scarpa M, Almássy Z, Beck M, Bodamer O, Bruce IA, De Meirleir L, Guffon N, Guillén-Navarro E, Hensman P, Jones S, Kamin W, Kampmann C, Lampe C, Lavery CA, Teles EL, Link B, Lund AM, Malm G, Pitz S, Rothera M, Stewart C, Tylki-Szymańska A, van der Ploeg A, Walker R, Zeman J, Wraith JE; Hunter Syndrome Europena Expert Council
Orphanet J Rare Dis 2011 Nov 7;6:72. doi: 10.1186/1750-1172-6-72. PMID: 22059643Free PMC Article
Fons C, Arias A, Sempere A, Póo P, Pineda M, Mas A, López-Sala A, Garcia-Villoria J, Vilaseca MA, Ozaez L, Lluch M, Artuch R, Campistol J, Ribes A
Mol Genet Metab 2010 Mar;99(3):296-9. Epub 2009 Nov 1 doi: 10.1016/j.ymgme.2009.10.186. PMID: 19955008
Levin JH, Kaler SG
Clin Genet 2007 Oct;72(4):345-50. doi: 10.1111/j.1399-0004.2007.00851.x. PMID: 17850631
Moser HW, Raymond GV, Lu SE, Muenz LR, Moser AB, Xu J, Jones RO, Loes DJ, Melhem ER, Dubey P, Bezman L, Brereton NH, Odone A
Arch Neurol 2005 Jul;62(7):1073-80. doi: 10.1001/archneur.62.7.1073. PMID: 16009761

Prognosis

Pitts L, White JM, Ladores S, Wilson CM
J Pediatr Nurs 2023 Sep-Oct;72:e53-e70. Epub 2023 Jun 16 doi: 10.1016/j.pedn.2023.06.005. PMID: 37331834
Passi GR, Pandey S, Devi ARR, Konanki R, Jain AR, Bhatnagar S, Tripathi R, Jain V
Brain Dev 2022 Apr;44(4):271-280. Epub 2021 Dec 30 doi: 10.1016/j.braindev.2021.12.004. PMID: 34974949
Xu X, Lu F, Zhang L, Li H, Du S, Tang J
BMC Pediatr 2021 Sep 3;21(1):384. doi: 10.1186/s12887-021-02860-4. PMID: 34479510Free PMC Article
Guerra JVS, Oliveira-Santos J, Oliveira DF, Leal GF, Oliveira JRM, Costa SS, Krepischi ACV, Vianna-Morgante AM, Maschietto M
Eur J Med Genet 2020 Mar;63(3):103737. Epub 2019 Aug 13 doi: 10.1016/j.ejmg.2019.103737. PMID: 31419599
Dibbens LM, Tarpey PS, Hynes K, Bayly MA, Scheffer IE, Smith R, Bomar J, Sutton E, Vandeleur L, Shoubridge C, Edkins S, Turner SJ, Stevens C, O'Meara S, Tofts C, Barthorpe S, Buck G, Cole J, Halliday K, Jones D, Lee R, Madison M, Mironenko T, Varian J, West S, Widaa S, Wray P, Teague J, Dicks E, Butler A, Menzies A, Jenkinson A, Shepherd R, Gusella JF, Afawi Z, Mazarib A, Neufeld MY, Kivity S, Lev D, Lerman-Sagie T, Korczyn AD, Derry CP, Sutherland GR, Friend K, Shaw M, Corbett M, Kim HG, Geschwind DH, Thomas P, Haan E, Ryan S, McKee S, Berkovic SF, Futreal PA, Stratton MR, Mulley JC, Gécz J
Nat Genet 2008 Jun;40(6):776-81. Epub 2008 May 11 doi: 10.1038/ng.149. PMID: 18469813Free PMC Article

Clinical prediction guides

Xu X, Lu F, Zhang L, Li H, Du S, Tang J
BMC Pediatr 2021 Sep 3;21(1):384. doi: 10.1186/s12887-021-02860-4. PMID: 34479510Free PMC Article
Lotan D, Salazar-Mendiguchía J, Mogensen J, Rathore F, Anastasakis A, Kaski J, Garcia-Pavia P, Olivotto I, Charron P, Biagini E, Baban A, Limongelli G, Ashram W, Wasserstrum Y, Galvin J, Zorio E, Iacovoni A, Monserrat L, Spirito P, Iascone M, Arad M; Cooperating Investigators‡
Circ Genom Precis Med 2020 Dec;13(6):e003117. Epub 2020 Nov 5 doi: 10.1161/CIRCGEN.120.003117. PMID: 33151750
Sakakibara N, Nagano C, Ishiko S, Horinouchi T, Yamamura T, Minamikawa S, Shima Y, Nakanishi K, Ishimori S, Morisada N, Iijima K, Nozu K
Pediatr Nephrol 2020 Dec;35(12):2319-2326. Epub 2020 Jul 18 doi: 10.1007/s00467-020-04701-5. PMID: 32683654
Guerra JVS, Oliveira-Santos J, Oliveira DF, Leal GF, Oliveira JRM, Costa SS, Krepischi ACV, Vianna-Morgante AM, Maschietto M
Eur J Med Genet 2020 Mar;63(3):103737. Epub 2019 Aug 13 doi: 10.1016/j.ejmg.2019.103737. PMID: 31419599
Dibbens LM, Tarpey PS, Hynes K, Bayly MA, Scheffer IE, Smith R, Bomar J, Sutton E, Vandeleur L, Shoubridge C, Edkins S, Turner SJ, Stevens C, O'Meara S, Tofts C, Barthorpe S, Buck G, Cole J, Halliday K, Jones D, Lee R, Madison M, Mironenko T, Varian J, West S, Widaa S, Wray P, Teague J, Dicks E, Butler A, Menzies A, Jenkinson A, Shepherd R, Gusella JF, Afawi Z, Mazarib A, Neufeld MY, Kivity S, Lev D, Lerman-Sagie T, Korczyn AD, Derry CP, Sutherland GR, Friend K, Shaw M, Corbett M, Kim HG, Geschwind DH, Thomas P, Haan E, Ryan S, McKee S, Berkovic SF, Futreal PA, Stratton MR, Mulley JC, Gécz J
Nat Genet 2008 Jun;40(6):776-81. Epub 2008 May 11 doi: 10.1038/ng.149. PMID: 18469813Free PMC Article

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