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Intellectual disability, X-linked 91(XLID91)

MedGen UID:
375592
Concept ID:
C1845142
Mental or Behavioral Dysfunction
Synonym: XLID91
 
Monarch Initiative: MONDO:0010363
OMIM®: 300577

Definition

Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ZDHHC15 gene. [from MONDO]

Clinical features

From HPO
Cubitus valgus
MedGen UID:
490152
Concept ID:
C0158465
Acquired Abnormality
Abnormal positioning in which the elbows are turned out.
Small hand
MedGen UID:
108279
Concept ID:
C0575802
Finding
Disproportionately small hand.
Short 5th finger
MedGen UID:
334269
Concept ID:
C1842878
Congenital Abnormality
Hypoplasia (congenital reduction in size) of the fifth finger, also known as the little finger.
Short foot
MedGen UID:
376415
Concept ID:
C1848673
Finding
A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective).
Clinodactyly
MedGen UID:
1644094
Concept ID:
C4551485
Congenital Abnormality
An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe).
Obesity
MedGen UID:
18127
Concept ID:
C0028754
Disease or Syndrome
Accumulation of substantial excess body fat.
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.
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.
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.
Absent speech
MedGen UID:
340737
Concept ID:
C1854882
Finding
Complete lack of development of speech and language abilities.
Severe muscular hypotonia
MedGen UID:
326544
Concept ID:
C1839630
Finding
A severe degree of muscular hypotonia characterized by markedly reduced muscle tone.
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).
Macrodontia
MedGen UID:
82729
Concept ID:
C0266036
Finding
Increased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD above mean for age. Alternatively, an apparently increased maximum width of the tooth.
Abnormal facial shape
MedGen UID:
98409
Concept ID:
C0424503
Finding
An abnormal morphology (form) of the face or its components.
Epicanthus
MedGen UID:
151862
Concept ID:
C0678230
Congenital Abnormality
Epicanthus is a condition in which a fold of skin stretches from the upper to the lower eyelid, partially covering the inner canthus. Usher (1935) noted that epicanthus is a normal finding in the fetus of all races. Epicanthus also occurs in association with hereditary ptosis (110100).
Short nose
MedGen UID:
343052
Concept ID:
C1854114
Finding
Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip.
Low posterior hairline
MedGen UID:
383755
Concept ID:
C1855728
Finding
Hair on the neck extends more inferiorly than usual.

Professional guidelines

PubMed

Yee KS, Alexanderian D, Merberg D, Natarajan M, Wang S, Wu Y, Whiteman DAH
Mol Genet Metab 2023 Nov;140(3):107652. Epub 2023 Jul 13 doi: 10.1016/j.ymgme.2023.107652. PMID: 37506513
Agrawal N, Verma G, Saxena D, Kabra M, Gupta N, Mandal K, Moirangthem A, Sheth J, Puri RD, Bijarnia-Mahay S, Kapoor S, Danda S, H SV, Datar CA, Ranganath P, Shukla A, Dalal A, Srivastava P, Devi RR, Phadke SR
Eur J Med Genet 2022 Mar;65(3):104447. Epub 2022 Feb 8 doi: 10.1016/j.ejmg.2022.104447. PMID: 35144014
Møller LB, Mogensen M, Horn N
Biochimie 2009 Oct;91(10):1273-7. Epub 2009 Jun 6 doi: 10.1016/j.biochi.2009.05.011. PMID: 19501626

Recent clinical studies

Etiology

Winkelman JW, Grant NR, Molay F, Stephen CD, Sadjadi R, Eichler FS
Sleep Med 2022 Mar;91:31-34. Epub 2022 Feb 16 doi: 10.1016/j.sleep.2022.02.008. PMID: 35245789Free PMC Article
Turk BR, Theisen BE, Nemeth CL, Marx JS, Shi X, Rosen M, Jones RO, Moser AB, Watkins PA, Raymond GV, Tiffany C, Fatemi A
JAMA Neurol 2017 May 1;74(5):519-524. doi: 10.1001/jamaneurol.2016.5715. PMID: 28288261Free PMC Article
Stockler-Ipsiroglu S, van Karnebeek CD
Semin Neurol 2014 Jul;34(3):350-6. Epub 2014 Sep 5 doi: 10.1055/s-0034-1386772. PMID: 25192512
Ropers HH
Annu Rev Genomics Hum Genet 2010;11:161-87. doi: 10.1146/annurev-genom-082509-141640. PMID: 20822471
Tariverdian G, Vogel F
Cytogenet Cell Genet 2000;91(1-4):278-84. doi: 10.1159/000056857. PMID: 11173869

Diagnosis

Winkelman JW, Grant NR, Molay F, Stephen CD, Sadjadi R, Eichler FS
Sleep Med 2022 Mar;91:31-34. Epub 2022 Feb 16 doi: 10.1016/j.sleep.2022.02.008. PMID: 35245789Free PMC Article
Chiurazzi P, Kiani AK, Miertus J, Paolacci S, Barati S, Manara E, Stuppia L, Gurrieri F, Bertelli M
Acta Biomed 2020 Nov 9;91(13-S):e2020003. doi: 10.23750/abm.v91i13-S.10684. PMID: 33170170Free 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
Ropers HH
Annu Rev Genomics Hum Genet 2010;11:161-87. doi: 10.1146/annurev-genom-082509-141640. PMID: 20822471
Møller LB, Mogensen M, Horn N
Biochimie 2009 Oct;91(10):1273-7. Epub 2009 Jun 6 doi: 10.1016/j.biochi.2009.05.011. PMID: 19501626

Therapy

Franchi PM, Kulagina N, Ilinskaya A, Hoffpauir B, Qian MG, Sugimoto H
AAPS J 2023 Jun 20;25(4):61. doi: 10.1208/s12248-023-00821-6. PMID: 37340133
Groeneweg S, Peeters RP, Moran C, Stoupa A, Auriol F, Tonduti D, Dica A, Paone L, Rozenkova K, Malikova J, van der Walt A, de Coo IFM, McGowan A, Lyons G, Aarsen FK, Barca D, van Beynum IM, van der Knoop MM, Jansen J, Manshande M, Lunsing RJ, Nowak S, den Uil CA, Zillikens MC, Visser FE, Vrijmoeth P, de Wit MCY, Wolf NI, Zandstra A, Ambegaonkar G, Singh Y, de Rijke YB, Medici M, Bertini ES, Depoorter S, Lebl J, Cappa M, De Meirleir L, Krude H, Craiu D, Zibordi F, Oliver Petit I, Polak M, Chatterjee K, Visser TJ, Visser WE
Lancet Diabetes Endocrinol 2019 Sep;7(9):695-706. Epub 2019 Jul 31 doi: 10.1016/S2213-8587(19)30155-X. PMID: 31377265Free 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
Levin JH, Kaler SG
Clin Genet 2007 Oct;72(4):345-50. doi: 10.1111/j.1399-0004.2007.00851.x. PMID: 17850631
Muenzer J, Lamsa JC, Garcia A, Dacosta J, Garcia J, Treco DA
Acta Paediatr Suppl 2002;91(439):98-9. doi: 10.1111/j.1651-2227.2002.tb03115.x. PMID: 12572850

Prognosis

Yee KS, Alexanderian D, Merberg D, Natarajan M, Wang S, Wu Y, Whiteman DAH
Mol Genet Metab 2023 Nov;140(3):107652. Epub 2023 Jul 13 doi: 10.1016/j.ymgme.2023.107652. PMID: 37506513
Agrawal N, Verma G, Saxena D, Kabra M, Gupta N, Mandal K, Moirangthem A, Sheth J, Puri RD, Bijarnia-Mahay S, Kapoor S, Danda S, H SV, Datar CA, Ranganath P, Shukla A, Dalal A, Srivastava P, Devi RR, Phadke SR
Eur J Med Genet 2022 Mar;65(3):104447. Epub 2022 Feb 8 doi: 10.1016/j.ejmg.2022.104447. PMID: 35144014
Turk BR, Theisen BE, Nemeth CL, Marx JS, Shi X, Rosen M, Jones RO, Moser AB, Watkins PA, Raymond GV, Tiffany C, Fatemi A
JAMA Neurol 2017 May 1;74(5):519-524. doi: 10.1001/jamaneurol.2016.5715. PMID: 28288261Free 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
Takemoto Y, Suzuki Y, Tamakoshi A, Onodera O, Tsuji S, Hashimoto T, Shimozawa N, Orii T, Kondo N
J Hum Genet 2002;47(11):590-3. doi: 10.1007/s100380200090. PMID: 12436195

Clinical prediction guides

Agrawal N, Verma G, Saxena D, Kabra M, Gupta N, Mandal K, Moirangthem A, Sheth J, Puri RD, Bijarnia-Mahay S, Kapoor S, Danda S, H SV, Datar CA, Ranganath P, Shukla A, Dalal A, Srivastava P, Devi RR, Phadke SR
Eur J Med Genet 2022 Mar;65(3):104447. Epub 2022 Feb 8 doi: 10.1016/j.ejmg.2022.104447. PMID: 35144014
Reichert SC, Li R, A Turner S, van Jaarsveld RH, Massink MPG, van den Boogaard MH, Del Toro M, Rodríguez-Palmero A, Fourcade S, Schlüter A, Planas-Serra L, Pujol A, Iascone M, Maitz S, Loong L, Stewart H, De Franco E, Ellard S, Frank J, Lewandowski R
Clin Genet 2020 Jul;98(1):91-98. Epub 2020 May 15 doi: 10.1111/cge.13765. PMID: 32335897
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
Pereira Fdos S, Matte U, Habekost CT, de Castilhos RM, El Husny AS, Lourenço CM, Vianna-Morgante AM, Giuliani L, Galera MF, Honjo R, Kim CA, Politei J, Vargas CR, Jardim LB
PLoS One 2012;7(3):e34195. Epub 2012 Mar 29 doi: 10.1371/journal.pone.0034195. PMID: 22479560Free PMC Article
Møller LB, Mogensen M, Horn N
Biochimie 2009 Oct;91(10):1273-7. Epub 2009 Jun 6 doi: 10.1016/j.biochi.2009.05.011. PMID: 19501626

Recent systematic reviews

Mallack EJ, Turk BR, Yan H, Price C, Demetres M, Moser AB, Becker C, Hollandsworth K, Adang L, Vanderver A, Van Haren K, Ruzhnikov M, Kurtzberg J, Maegawa G, Orchard PJ, Lund TC, Raymond GV, Regelmann M, Orsini JJ, Seeger E, Kemp S, Eichler F, Fatemi A
J Inherit Metab Dis 2021 May;44(3):728-739. Epub 2021 Jan 9 doi: 10.1002/jimd.12356. PMID: 33373467Free PMC Article

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