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Intellectual developmental disorder, X-linked 111(XLID111)

MedGen UID:
1840204
Concept ID:
C5829568
Mental or Behavioral Dysfunction
Synonym: XLID111
 
Gene (location): SLITRK2 (Xq27.3)
 
Monarch Initiative: MONDO:0957203
OMIM®: 301107

Definition

X-linked intellectual developmental disorder-111 (XLID111) is a neurodevelopmental disorder characterized by different degrees of impaired intellectual development associated with motor, speech, and behavioral impairments (El Chehadeh et al., 2022). [from OMIM]

Clinical features

From HPO
Feeding difficulties
MedGen UID:
65429
Concept ID:
C0232466
Finding
Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.
Aggressive behavior
MedGen UID:
1375
Concept ID:
C0001807
Individual Behavior
Behavior or an act aimed at harming a person, animal, or physical property (e.g., acts of physical violence; shouting, swearing, and using harsh language; slashing someone's tires).
Anxiety
MedGen UID:
1613
Concept ID:
C0003467
Finding
Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is worry about the negative effects of past unpleasant experiences and future negative possibilities. Individuals may feel fearful, apprehensive, or threatened by uncertainty, and they may also have fears of falling apart or losing control.
Cerebral palsy
MedGen UID:
854
Concept ID:
C0007789
Disease or Syndrome
Cerebral palsy describes a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication, and behavior, by epilepsy, and by secondary musculoskeletal problems.
Dystonic disorder
MedGen UID:
3940
Concept ID:
C0013421
Sign or Symptom
An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.
Spasticity
MedGen UID:
7753
Concept ID:
C0026838
Sign or Symptom
A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.
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.
Unsteady gait
MedGen UID:
68544
Concept ID:
C0231686
Finding
A shaky or wobbly manner of walking.
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.
Corpus callosum atrophy
MedGen UID:
96560
Concept ID:
C0431370
Finding
The presence of atrophy (wasting) of the corpus callosum.
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.
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.
Compulsive behaviors
MedGen UID:
109373
Concept ID:
C0600104
Mental or Behavioral Dysfunction
Behavior that consists of repetitive acts, characterized by the feeling that one "has to" perform them, while being aware that these acts are not in line with one's overall goal.
Phonic tics
MedGen UID:
155955
Concept ID:
C0751901
Sign or Symptom
Tics are defined as movements or sounds that resemble physiological motor behaviors, but are typically inopportune to social context and appear sudden, repetitive, and often exaggerated. Tic vocalizations commonly termed vocal or phonic tics may include any possible sound (eg, sniffing, coughing, throat clearing, whistling, or grunting), word, or sentence and are most commonly encountered within the spectrum of primary tic disorders, as Tourette syndrome.
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.
Absent speech
MedGen UID:
340737
Concept ID:
C1854882
Finding
Complete lack of development of speech and language abilities.
Ventriculomegaly
MedGen UID:
480553
Concept ID:
C3278923
Finding
An increase in size of the ventricular system of the brain.
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.
Hippocampal atrophy
MedGen UID:
939097
Concept ID:
C4315130
Disease or Syndrome
Partial or complete wasting (loss) of hippocampus tissue that was once present.
Thin corpus callosum
MedGen UID:
1785336
Concept ID:
C5441562
Anatomical Abnormality
An abnormally thin corpus callous, due to atrophy, hypoplasia or agenesis. This term is intended to be used in situations where it is not known if thinning of the corpus callosum (for instance, as visualized by magnetic resonance tomography) is due to abnormal development (e.g. a leukodystrophy) or atrophy following normal development (e.g. neurodegeneration).
Reduced cerebral white matter volume
MedGen UID:
1815057
Concept ID:
C5706151
Finding
An abnormally low volume of the white matter of the brain.
Kyphoscoliosis
MedGen UID:
154361
Concept ID:
C0575158
Anatomical Abnormality
An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane.

Professional guidelines

PubMed

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: 33176815Free PMC Article
Theda C, Gibbons K, Defor TE, Donohue PK, Golden WC, Kline AD, Gulamali-Majid F, Panny SR, Hubbard WC, Jones RO, Liu AK, Moser AB, Raymond GV
Mol Genet Metab 2014 Jan;111(1):55-7. Epub 2013 Nov 9 doi: 10.1016/j.ymgme.2013.10.019. PMID: 24268529Free PMC Article
Kallinen J, Heinonen S, Mannermaa A, Ryynänen M
Clin Genet 2000 Aug;58(2):111-5. doi: 10.1034/j.1399-0004.2000.580204.x. PMID: 11005143

Recent clinical studies

Etiology

May D, Kponee-Shovein K, Mahendran M, Downes N, Sheng K, Lefebvre P, Cheng WY
BMC Neurol 2023 Apr 4;23(1):141. doi: 10.1186/s12883-023-03181-y. PMID: 37016355Free PMC Article
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: 33176815Free PMC Article
Royston R, Oliver C, Howlin P, Dosse A, Armitage P, Moss J, Waite J
J Autism Dev Disord 2020 Mar;50(3):893-903. doi: 10.1007/s10803-019-04317-1. PMID: 31802317Free PMC Article
Buentzel J, Yao S, Elakad O, Lois AM, Brünies J, König J, Hinterthaner M, Danner BC, Ströbel P, Emmert A, Bohnenberger H
Medicine (Baltimore) 2019 Aug;98(31):e16712. doi: 10.1097/MD.0000000000016712. PMID: 31374064Free PMC Article
Glaze DG, Neul JL, Kaufmann WE, Berry-Kravis E, Condon S, Stoms G, Oosterholt S, Della Pasqua O, Glass L, Jones NE, Percy AK; Rett 002 Study Group
Neurology 2019 Apr 16;92(16):e1912-e1925. Epub 2019 Mar 27 doi: 10.1212/WNL.0000000000007316. PMID: 30918097Free PMC Article

Diagnosis

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: 33176815Free PMC Article
Wong LC, Singh S, Wang HP, Hsu CJ, Hu SC, Lee WT
Int J Mol Sci 2019 Aug 26;20(17) doi: 10.3390/ijms20174176. PMID: 31454984Free PMC Article
Hunter J, Rivero-Arias O, Angelov A, Kim E, Fotheringham I, Leal J
Am J Med Genet A 2014 Jul;164A(7):1648-58. Epub 2014 Apr 3 doi: 10.1002/ajmg.a.36511. PMID: 24700618
Bodemer C
Handb Clin Neurol 2013;111:341-7. doi: 10.1016/B978-0-444-52891-9.00040-3. PMID: 23622185
des Portes V
Handb Clin Neurol 2013;111:297-306. doi: 10.1016/B978-0-444-52891-9.00035-X. PMID: 23622180

Therapy

Berry-Kravis E, Horrigan JP, Tartaglia N, Hagerman R, Kolevzon A, Erickson CA, Hatti S, Snape M, Yaroshinsky A, Stoms G; FXS-001 Investigators, Glass L, Jones NE
Pediatr Neurol 2020 Sep;110:30-41. Epub 2020 May 23 doi: 10.1016/j.pediatrneurol.2020.04.019. PMID: 32660869
Glaze DG, Neul JL, Kaufmann WE, Berry-Kravis E, Condon S, Stoms G, Oosterholt S, Della Pasqua O, Glass L, Jones NE, Percy AK; Rett 002 Study Group
Neurology 2019 Apr 16;92(16):e1912-e1925. Epub 2019 Mar 27 doi: 10.1212/WNL.0000000000007316. PMID: 30918097Free PMC Article
Vacca M, Della Ragione F, Scalabrì F, D'Esposito M
Semin Cell Dev Biol 2016 Aug;56:78-87. Epub 2016 Mar 17 doi: 10.1016/j.semcdb.2016.03.009. PMID: 26994527
Bhatnagar S, Zhu X, Ou J, Lin L, Chamberlain L, Zhu LJ, Wajapeyee N, Green MR
Proc Natl Acad Sci U S A 2014 Sep 2;111(35):12591-8. Epub 2014 Aug 18 doi: 10.1073/pnas.1413620111. PMID: 25136103Free PMC Article
Hunter J, Rivero-Arias O, Angelov A, Kim E, Fotheringham I, Leal J
Am J Med Genet A 2014 Jul;164A(7):1648-58. Epub 2014 Apr 3 doi: 10.1002/ajmg.a.36511. PMID: 24700618

Prognosis

Rajan-Babu IS, Phang GP, Law HY, Lee CG, Chong SS
J Mol Diagn 2022 Mar;24(3):241-252. Epub 2022 Jan 14 doi: 10.1016/j.jmoldx.2021.11.007. PMID: 35038595
Royston R, Oliver C, Howlin P, Dosse A, Armitage P, Moss J, Waite J
J Autism Dev Disord 2020 Mar;50(3):893-903. doi: 10.1007/s10803-019-04317-1. PMID: 31802317Free PMC Article
Buentzel J, Yao S, Elakad O, Lois AM, Brünies J, König J, Hinterthaner M, Danner BC, Ströbel P, Emmert A, Bohnenberger H
Medicine (Baltimore) 2019 Aug;98(31):e16712. doi: 10.1097/MD.0000000000016712. PMID: 31374064Free PMC Article
Tonnsen BL, Wheeler AC, Hamrick LR, Roberts JE
J Clin Child Adolesc Psychol 2019 May-Jun;48(3):412-422. Epub 2018 Nov 5 doi: 10.1080/15374416.2018.1514613. PMID: 30396281Free PMC Article
Bodemer C
Handb Clin Neurol 2013;111:341-7. doi: 10.1016/B978-0-444-52891-9.00040-3. PMID: 23622185

Clinical prediction guides

May D, Kponee-Shovein K, Mahendran M, Downes N, Sheng K, Lefebvre P, Cheng WY
BMC Neurol 2023 Apr 4;23(1):141. doi: 10.1186/s12883-023-03181-y. PMID: 37016355Free PMC Article
Glaze DG, Neul JL, Kaufmann WE, Berry-Kravis E, Condon S, Stoms G, Oosterholt S, Della Pasqua O, Glass L, Jones NE, Percy AK; Rett 002 Study Group
Neurology 2019 Apr 16;92(16):e1912-e1925. Epub 2019 Mar 27 doi: 10.1212/WNL.0000000000007316. PMID: 30918097Free PMC Article
Hunter J, Rivero-Arias O, Angelov A, Kim E, Fotheringham I, Leal J
Am J Med Genet A 2014 Jul;164A(7):1648-58. Epub 2014 Apr 3 doi: 10.1002/ajmg.a.36511. PMID: 24700618
Bodemer C
Handb Clin Neurol 2013;111:341-7. doi: 10.1016/B978-0-444-52891-9.00040-3. PMID: 23622185
Bakker CE, Oostra BA
Cytogenet Genome Res 2003;100(1-4):111-23. doi: 10.1159/000072845. PMID: 14526171

Recent systematic reviews

Hunter J, Rivero-Arias O, Angelov A, Kim E, Fotheringham I, Leal J
Am J Med Genet A 2014 Jul;164A(7):1648-58. Epub 2014 Apr 3 doi: 10.1002/ajmg.a.36511. PMID: 24700618

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