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Intellectual disability, X-linked 45(XLID45)

MedGen UID:: 375633
•Concept ID:: C1845333
•: Mental or Behavioral Dysfunction

Synonym:	XLID45

Monarch Initiative:	MONDO:0010344
OMIM®:	300498

Definition

Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ZNF81 gene. [from MONDO]

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).

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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).

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Protruding ear

MedGen UID:: 343309
•Concept ID:: C1855285
•: Finding

Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective).

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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.

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High palate

MedGen UID:: 66814
•Concept ID:: C0240635
•: Congenital Abnormality

Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).

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Prominent nasal bridge

MedGen UID:: 343051
•Concept ID:: C1854113
•: Finding

Anterior positioning of the nasal root in comparison to the usual positioning for age.

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Abnormality of head or neck
- High palate
- Prominent nasal bridge
Abnormality of the nervous system
- Intellectual disability
Ear malformation
- Macrotia
- Protruding ear
Growth abnormality
- Short stature

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

Streamlined determination of lysophosphatidylcholines in dried blood spots for newborn screening of X-linked adrenoleukodystrophy.

Turgeon CT, Moser AB, Mørkrid L, Magera MJ, Gavrilov DK, Oglesbee D, Raymond K, Rinaldo P, Matern D, Tortorelli S
Mol Genet Metab 2015 Jan;114(1):46-50. Epub 2014 Nov 27 doi: 10.1016/j.ymgme.2014.11.013. PMID: 25481105

Phenotype-genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literature.

Nizon M, Andrieux J, Rooryck C, de Blois MC, Bourel-Ponchel E, Bourgois B, Boute O, David A, Delobel B, Duban-Bedu B, Giuliano F, Goldenberg A, Grotto S, Héron D, Karmous-Benailly H, Keren B, Lacombe D, Lapierre JM, Le Caignec C, Le Galloudec E, Le Merrer M, Le Moing AG, Mathieu-Dramard M, Nusbaum S, Pichon O, Pinson L, Raoul O, Rio M, Romana S, Roubertie A, Colleaux L, Turleau C, Vekemans M, Nabbout R, Malan V
Am J Med Genet A 2015 Jan;167A(1):111-22. Epub 2014 Nov 25 doi: 10.1002/ajmg.a.36807. PMID: 25425167

See all (9)

Recent clinical studies

Etiology

Next-Generation Sequencing in Unexplained Intellectual Disability.

Sandal S, Verma IC, Mahay SB, Dubey S, Sabharwal RK, Kulshrestha S, Saxena R, Suman P, Kumar P, Puri RD
Indian J Pediatr 2024 Jul;91(7):682-695. Epub 2023 Oct 7 doi: 10.1007/s12098-023-04820-5. PMID: 37804371

Natural history of Becker muscular dystrophy: a multicenter study of 225 patients.

Nakamura A, Matsumura T, Ogata K, Mori-Yoshimura M, Takeshita E, Kimura K, Kawashima T, Tomo Y, Arahata H, Miyazaki D, Takeshima Y, Takahashi T, Ishigaki K, Kuru S, Wakisaka A, Awano H, Funato M, Sato T, Saito Y, Takada H, Sugie K, Kobayashi M, Ozasa S, Fujii T, Maegaki Y, Oi H, Tachimori H, Komaki H
Ann Clin Transl Neurol 2023 Dec;10(12):2360-2372. Epub 2023 Oct 26 doi: 10.1002/acn3.51925. PMID: 37882106 Free PMC Article

X-linked intellectual disability: Phenotypic expression in carrier females.

Ziats CA, Schwartz CE, Gecz J, Shaw M, Field MJ, Stevenson RE, Neri G
Clin Genet 2020 Mar;97(3):418-425. Epub 2019 Nov 24 doi: 10.1111/cge.13667. PMID: 31705537

Clinical profile of adrenoleukodysrophy.

Acharya SV, Gopal RA, Bandgar TR, Joshi SR, Menon PS, Shah NS
Indian J Pediatr 2009 Oct;76(10):1045-7. Epub 2009 Nov 12 doi: 10.1007/s12098-009-0220-0. PMID: 19907937

Autism and genetics. A decade of research.

Smalley SL, Asarnow RF, Spence MA
Arch Gen Psychiatry 1988 Oct;45(10):953-61. doi: 10.1001/archpsyc.1988.01800340081013. PMID: 3048227

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Diagnosis

Next-Generation Sequencing in Unexplained Intellectual Disability.

Landscape of genetic infantile epileptic spasms syndrome-A multicenter cohort of 124 children from India.

Nagarajan B, Gowda VK, Yoganathan S, Sharawat IK, Srivastava K, Vora N, Badheka R, Danda S, Kalane U, Kaur A, Madaan P, Mehta S, Negi S, Panda PK, Rajadhyaksha S, Saini AG, Saini L, Shah S, Srinivasan VM, Suthar R, Thomas M, Vyas S, Sankhyan N, Sahu JK
Epilepsia Open 2023 Dec;8(4):1383-1404. Epub 2023 Aug 25 doi: 10.1002/epi4.12811. PMID: 37583270 Free PMC Article

The X factor.

Shamim MM, Vickers A, Lee AG, Costello F
Surv Ophthalmol 2019 Nov-Dec;64(6):876-883. Epub 2018 Dec 4 doi: 10.1016/j.survophthal.2018.11.003. PMID: 30521817

Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders.

Reuter MS, Tawamie H, Buchert R, Hosny Gebril O, Froukh T, Thiel C, Uebe S, Ekici AB, Krumbiegel M, Zweier C, Hoyer J, Eberlein K, Bauer J, Scheller U, Strom TM, Hoffjan S, Abdelraouf ER, Meguid NA, Abboud A, Al Khateeb MA, Fakher M, Hamdan S, Ismael A, Muhammad S, Abdallah E, Sticht H, Wieczorek D, Reis A, Abou Jamra R
JAMA Psychiatry 2017 Mar 1;74(3):293-299. doi: 10.1001/jamapsychiatry.2016.3798. PMID: 28097321

Clinical aspects of adrenoleukodystrophy and adrenomyeloneuropathy.

Moser HW, Moser AB, Naidu S, Bergin A
Dev Neurosci 1991;13(4-5):254-61. doi: 10.1159/000112170. PMID: 1817030

See all (72)

Therapy

Clinical Characteristics, Developmental Trajectory, and Caregiver Burden of Patients With Creatine Transporter Deficiency (SLC6A8).

Curie A, Lion-François L, Valayannopoulos V, Perreton N, Gavanon M, Touil N, Brun-Laurisse A, Gheurbi F, Buchy M, Halep H, Cheillan D, Mercier C, Brassier A, Desnous B, Kassai B, De Lonlay P, Des Portes V
Neurology 2024 Apr 23;102(8):e209243. Epub 2024 Mar 26 doi: 10.1212/WNL.0000000000209243. PMID: 38531017

X-linked intellectual disability: Phenotypic expression in carrier females.

Ziats CA, Schwartz CE, Gecz J, Shaw M, Field MJ, Stevenson RE, Neri G
Clin Genet 2020 Mar;97(3):418-425. Epub 2019 Nov 24 doi: 10.1111/cge.13667. PMID: 31705537

Mavoglurant in fragile X syndrome: Results of two randomized, double-blind, placebo-controlled trials.

Berry-Kravis E, Des Portes V, Hagerman R, Jacquemont S, Charles P, Visootsak J, Brinkman M, Rerat K, Koumaras B, Zhu L, Barth GM, Jaecklin T, Apostol G, von Raison F
Sci Transl Med 2016 Jan 13;8(321):321ra5. doi: 10.1126/scitranslmed.aab4109. PMID: 26764156

Is subclinical adrenal failure in adrenoleukodystrophy/adrenomyeloneuropathy reversible?

Cappa M, Bizzarri C, Giannone G, Aiello C, Di Biase A
J Endocrinol Invest 2011 Nov;34(10):753-6. Epub 2011 Mar 7 doi: 10.3275/7570. PMID: 21399389

Clinical profile of adrenoleukodysrophy.

Acharya SV, Gopal RA, Bandgar TR, Joshi SR, Menon PS, Shah NS
Indian J Pediatr 2009 Oct;76(10):1045-7. Epub 2009 Nov 12 doi: 10.1007/s12098-009-0220-0. PMID: 19907937

See all (17)

Prognosis

Natural history of Becker muscular dystrophy: a multicenter study of 225 patients.

Natural history of alpha-thalassemia X-linked intellectual disability syndrome: A case report of a 45-year-old man.

Arvio M, Lähdetie J
Am J Med Genet A 2021 Jul;185(7):2164-2167. Epub 2021 May 4 doi: 10.1002/ajmg.a.62213. PMID: 33942960

Neurological findings in incontinentia pigmenti; a review.

Meuwissen ME, Mancini GM
Eur J Med Genet 2012 May;55(5):323-31. Epub 2012 May 4 doi: 10.1016/j.ejmg.2012.04.007. PMID: 22564885

Clinical profile of adrenoleukodysrophy.

Acharya SV, Gopal RA, Bandgar TR, Joshi SR, Menon PS, Shah NS
Indian J Pediatr 2009 Oct;76(10):1045-7. Epub 2009 Nov 12 doi: 10.1007/s12098-009-0220-0. PMID: 19907937

Clinical aspects of adrenoleukodystrophy and adrenomyeloneuropathy.

Moser HW, Moser AB, Naidu S, Bergin A
Dev Neurosci 1991;13(4-5):254-61. doi: 10.1159/000112170. PMID: 1817030

See all (29)

Clinical prediction guides

SRPK3 Is Essential for Cognitive and Ocular Development in Humans and Zebrafish, Explaining X-Linked Intellectual Disability.

Roychaudhury A, Lee YR, Choi TI, Thomas MG, Khan TN, Yousaf H, Skinner C, Maconachie G, Crosier M, Horak H, Constantinescu CS, Kim TY, Lee KH, Kyung JJ, Wang T, Ku B, Chodirker BN, Hammer MF, Gottlob I, Norton WHJ, Gerlai R, Kim HG, Graziano C, Pippucci T, Iovino E, Montanari F, Severi G, Toro C, Boerkoel CF, Cha HS, Choi CY, Kim S, Yoon JH, Gilmore K, Vora NL, Davis EE, Chudley AE, Schwartz CE, Kim CH
Ann Neurol 2024 Nov;96(5):914-931. Epub 2024 Jul 29 doi: 10.1002/ana.27037. PMID: 39073169 Free PMC Article

Next-Generation Sequencing in Unexplained Intellectual Disability.

Natural history of Becker muscular dystrophy: a multicenter study of 225 patients.

Landscape of genetic infantile epileptic spasms syndrome-A multicenter cohort of 124 children from India.

Autism and genetics. A decade of research.

Smalley SL, Asarnow RF, Spence MA
Arch Gen Psychiatry 1988 Oct;45(10):953-61. doi: 10.1001/archpsyc.1988.01800340081013. PMID: 3048227

See all (39)