N NEXMIF Foundation Est. 2025 · 501(c)(3) non-profit
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A rare X-linked condition · approximately 350 patients identified worldwide

Rewriting
what's possible
for NEXMIF

The NEXMIF Foundation is a non-profit organization advancing the science of NEXMIF-related syndrome, a rare X-linked disorder whose features, including autism, epilepsy, and developmental delay, vary depending on how each individual is affected by the gene. Our mission is to serve the public interest by raising awareness of the NEXMIF gene mutation and mobilizing funding to support vital scientific research, therapeutic development, and educational outreach.

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Locus: Xq13.2,q13.3 4 exons · ~192 kb gene span NEXMIF
~350
Patients identified through the international community*
*via the XLID98 Facebook group; peer-reviewed literature documents a smaller subset3
ASD
Recognized as a Category 1 high-confidence autism gene by SFARI17
83%
Experience seizures, often drug-resistant1
99%
Present with developmental delay1
§ 03 / The Condition

An under-recognized neurodevelopmental disorder on the X chromosome

NEXMIF-related disorder is a rare X-linked neurodevelopmental condition caused by pathogenic variants in the NEXMIF gene, Neurite EXtension and MIgration Factor, located at the Xq13.2,q13.3 boundary on the X chromosome, spanning approximately 192 kb across 4 exons that encode a 1,516,amino acid neuronal protein.2312 The gene encodes a neuron-specific protein essential for proper neurite outgrowth, neuronal migration, and synaptic formation during brain development.45

Affected individuals typically present with autism spectrum disorder, seizures (often drug-resistant epilepsy, including myoclonic and absence seizures with eyelid myoclonia) and developmental delay. Additional features include hypotonia, gait and balance disturbances, behavioral abnormalities, challenges with sensory needs, speech impairment ranging from delayed to absent language, and vision defects (such as strabismus and torpedo maculopathy31). In addition, individuals may have multi-system findings such as gastrointestinal (gastrointestinal reflux, constipation), sleep abnormalities, endocrine, and dysmorphic features. NEXMIF is recognized as a high-confidence (Category 1) autism-implicated gene by the Simons Foundation Autism Research Initiative (SFARI).1

Because the gene is X-linked, males generally exhibit more severe developmental impact, while heterozygous females show striking phenotypic variability, from nearly asymptomatic carriers to severely affected individuals with intractable epilepsy. This variability is thought to be driven, in part, by X-chromosome inactivation patterns.71

Despite its small known population, NEXMIF-related disorder has emerged as a clinically and scientifically tractable target. Loss-of-function is the dominant disease mechanism, animal models exist,8 and the gene's biology is increasingly well-characterized9, making it a strong candidate for precision and individualized therapeutic strategies.

Gene at a glance

NEXMIF on the X chromosome

NEXMIF Xq13.2–q13.3 p q
Locus Xq13.2,q13.3
Gene span ~192 kb
Exons 4
Protein 1,516 aa
Constraint pLI = 1 / LOEUF = 0.2
Inheritance X-linked

OMIM gene #300524 · disease #300912 · HGNC:29433 · UniProt Q5QGS0

What is NEXMIF?

Key facts at a glance · NEXMIF-related disorder (historically called XLID98 or KIAA2022 syndrome)

NEXMIF-related disorder is a rare X-linked neurodevelopmental disorder caused by changes in the NEXMIF gene.

Why this matters

NEXMIF is essential for healthy brain development and communication between neurons. When the gene is not working properly, brain development and function are affected.

Genetic cause

Caused by variants (mutations) in the NEXMIF gene, which plays a key role in brain cells. Most mutations are loss of function variants (nonsense, frameshift, splice site, large deletions) that reduce or eliminate the function of the protein. The mutation is not due to anything the parents have done before or during pregnancy or to issues with delivery. The gene changes, or mutations, occur on their own. If you are concerned about siblings or other family members having the mutation, consider talking to your physician about genetic testing.

X

X-linked inheritance

NEXMIF is located on the X chromosome. Both males and females can be affected. Males are often more severely affected on average, but females can also be significantly affected. Because females have two X chromosomes, one of which may allow normal NEXMIF protein production, they may have less severe disease.

Role in the brain

NEXMIF is crucial for normal brain development. It plays an important role in synapse formation, neuronal connectivity, and communication.

Clinical features

Common features include developmental delay, epilepsy, autism spectrum traits, speech/language delays, and motor challenges.

Rarity & impact

NEXMIF-related disorder is rare, but it has a significant impact on individuals and families. More research is bringing us closer to targeted therapies and better outcomes.

§ 04 / Epidemiology

An ultra-rare disorder, and almost certainly under-diagnosed

Because NEXMIF was only formally linked to disease in 2004 and renamed in 2018, diagnosis depends almost entirely on access to whole-exome or whole-genome sequencing. NEXMIF is now routinely included on diagnostic gene panels for autism spectrum disorder, developmental delay, and developmental and epileptic encephalopathies. As clinical genetic testing has become more accessible, the number of identified cases has grown rapidly, but most patients still receive their diagnosis after years of unexplained developmental delay, autistic features, and seizures.17

Consider asking your physician to test for the NEXMIF variation if your loved one has unexplained seizures that are difficult to treat, autism and delays in speech and movement.

Global prevalence

Published clinical literature has documented several hundred individuals with pathogenic NEXMIF variants worldwide, distributed across case reports, cohort studies, and systematic reviews.31 The international XLID98 Facebook community (administered by Kristi Bakker) has independently identified approximately 350 patients, meaningfully more than the peer-reviewed clinical literature, and a more accurate reflection of the diagnosed community to date. True global prevalence remains unknown and is almost certainly higher still, as the condition requires next-generation sequencing for confirmation.9

Sex distribution

Reported cohorts contain more females than males, the inverse of most X-linked disorders.1 This likely reflects ascertainment bias from severe seizure phenotypes in females,7 with under-recognition of mildly-affected male relatives and asymptomatic female carriers.

Phenotypic spectrum

In the largest published cohort (n=87): 99% developmental delay/ID and 83% seizures, with generalized myoclonic and absence seizures predominating. Autism spectrum disorder and autistic features are core to the disorder, NEXMIF is classified as a Category 1 ASD gene by SFARI. Males show more severe cognitive impairment and ASD features; females show more frequent, often drug-resistant epilepsy.117

Common symptoms beyond the core triad

Frequently reported features

Seizures

Often drug-resistant; generalized

Myoclonic, absence, eyelid myoclonia with absence, and atonic seizures predominate. Frequently difficult to fully control with medication.1

Movement issues

Ataxia, unstable gait

Difficulty with coordination, balance, and walking. Some individuals never achieve independent walking; others walk with an unsteady, wide-based gait.1

Attention difficulties

ADHD · hyperactivity

Attention-deficit/hyperactivity disorder is commonly reported, including hyperactivity, impulsivity, and difficulty maintaining focus across tasks.6

Reflux

GERD · gastroesophageal reflux disease

Gastroesophageal reflux is frequently reported, particularly in infancy and early childhood, and may require medical or surgical management.1

Microcephaly

Smaller-than-average head size

A head circumference below the typical range for age and sex. Often present from infancy and reflects altered early brain development.4

Hypotonia

Lower-than-average muscle tone

Reduced muscle tone, often present from infancy. Can affect feeding, posture, motor milestones, and contribute to delayed walking.14

Not every individual has every symptom. Severity varies significantly between patients, and males and females are affected differently.
§ 05 / A history of names

One gene, many names

Over two decades, NEXMIF has been known by half a dozen different identifiers as the genetics community has refined both its nomenclature and its language. Each name reflects a chapter in how the field came to understand this gene.

  • KIAA2022 Original cDNA clone identifier from the Kazusa DNA Research Institute, the gene's first name before its function was known
  • MRX98 Original historical OMIM designation assigned when first linked to non-syndromic X-linked intellectual disability (2004); no longer preferred
  • XLID98 X-Linked Intellectual Disability 98, current OMIM disease designation, reflecting modern, person-centered terminology
  • ID98 · XLID, Cantagrel type Alternate short-form and eponymous names recognizing the gene's discoverer
  • XPN · KIDLIA Earlier protein-level designations from functional studies before the official rename
  • NEXMIF · NEXMIF encephalopathy Current HGNC-approved gene name (2018) and clinical name, reflecting the protein's function in Neurite EXtension and MIgration
§ 06 / History

From an unknown cDNA to a named disease

The story of NEXMIF illustrates how a once obscure X linked locus became a recognized, internationally collaborative neurodevelopmental disorder over two decades.

2004
First disease association: Cantagrel and colleagues identify variants in KIAA2022 in males with nonsyndromic X linked intellectual disability, linking the locus to the OMIM designated MRX98 locus, the standard nomenclature of the era. The gene entry is catalogued at OMIM #300524.2
2013
Phenotype expanded in males: Van Maldergem et al. describe a broader male phenotype including poor or absent speech, autistic features, and subtle dysmorphisms, and show impaired neurite outgrowth in KIAA2022 deficient neurons.4
~2013
Disease renamed from MRX98 to XLID98: As medical genetics adopts more accurate, person centered language, OMIM and the broader community adopt X Linked Intellectual Disability 98 (XLID98) as the preferred disease name, preserving the numeric designation while updating the terminology. The disease entry is later catalogued at OMIM #300912.
2014, 2015
Autism and brain biology: Several groups (Kuroda, Charzewska, Moyses Oliveira, Farach & Northrup) characterize de novo gene disruptive variants in both males and females.1011 The protein is recognized as a regulator of neurite extension and migration.5
2016
The female phenotype emerges: de Lange et al. publish the first large series of 14 affected heterozygous females with developmental delay and intractable generalized epilepsy, reshaping understanding of the disorder's sex specific patterns.7
2018
Gene symbol renamed to NEXMIF: Following a decade of functional work, the HUGO Gene Nomenclature Committee (HGNC) formally renames the gene from KIAA2022 to NEXMIF, Neurite EXtension and MIgration Factor, finally giving it a function based name. The disease entry retains the XLID98 designation, but clinicians increasingly use “NEXMIF encephalopathy” or “NEXMIF related syndrome.”12
2019
Mouse models published: Gilbert et al. characterize Nexmif knockout mice, demonstrating reduced sociability, repetitive grooming, and learning & memory deficits, establishing a tractable preclinical platform.8
2021
Landmark international cohort: Stamberger, Møller, Mefford, Scheffer and the international NEXMIF consortium publish the largest study of NEXMIF encephalopathy (n = 87) in Genetics in Medicine, delineating two dominant clinical pictures across sexes.1
2022, 2025
Mechanism and modifiers: New work explores hippocampal CA1 dynamics,13 E/I imbalance in autism related NEXMIF biology, beta cell phenotypes,14 and the expanding mutational spectrum9, including novel female variants15 and rare multisystem presentations.16
Nov 2025
Preclinical proof of concept for X chromosome reactivation: In a bioRxiv preprint, Merth and Man report that pharmacologic inhibition of X chromosome inactivation maintenance increased NEXMIF expression in heterozygous female mice. A NEXMIF targeted CRISPR activation (CRISPRa) system increased NEXMIF transcription in human female cells and in vivo in wild type female mice, and restored expression in knockout neurons from heterozygous mouse primary cultures. These preclinical findings support further research into X reactivation, but do not establish a therapy or demonstrate patient benefit.18
2025
The NEXMIF Foundation is founded along with Curenexmif.org website: To educate the community, accelerate research and create the infrastructure for n-of-1 trials and precision therapeutics.
2025, present
Dr. Jagdeep Walia, Principal Investigator at Walia Lab, Queen's University in Canada: The Walia Lab brings its AAV based gene therapy platform and expertise in rare CNS disorders to NEXMIF, and is actively developing and maintaining NEXMIF mouse models that provide critical preclinical infrastructure for the foundation's therapeutic mission.29
§ 07 / Research Landscape

The science behind a cure-directed strategy

Academic Research Groups Studying NEXMIF

Academic groups whose work is advancing NEXMIF biology and the field's therapeutic research.

The Walia Lab

Queen's University · Department of Pediatrics, Kingston, Ontario

Led by Dr. Jagdeep Walia, the Walia Lab has been a great supporter and research collaborator for the NEXMIF Foundation in the United States and Canada.

The lab maintains a highly translational gene-therapy platform: it develops AAV-based gene therapies for rare central nervous system disorders, with proven expertise in lysosomal storage diseases, creatine deficiency syndromes, and the production and characterization of disease-specific mouse models. The Walia Lab is actively developing and maintains NEXMIF mouse models, providing the foundation with critical preclinical infrastructure for evaluating gene therapy approaches in NEXMIF biology.

The lab has contributed directly to the published NEXMIF literature with detailed case reports characterizing the male phenotype29 and continues to expand the field's understanding of NEXMIF-related disorder through ongoing translational work.

walialab.com →

The Man Lab

Boston University

Generated the first Nexmif knockout mouse model8 and published proof-of-concept work on X-reactivation rescue in heterozygous female mice.18

people.bu.edu/hman →
Theoretical framework

A theoretical framework for the treatment pipeline

An illustrative pathway showing how precision-medicine approaches for a rare genetic disorder like NEXMIF could move from biological samples to individualized therapeutic candidates.

Important note

This framework is theoretical and illustrative. It represents how the field broadly approaches precision-medicine development for rare genetic conditions, it is not a description of clinical trials or therapies currently available to NEXMIF patients. The science required to move from concept to clinic remains in early stages, and many open questions remain.

1

Collect biological samples

Clinicians collect skin or blood samples from individuals with NEXMIF variants, providing the biological material needed for research.

2

Develop cell models

Researchers use those samples to develop patient-specific cell models in the lab, living cells that carry the same variant and reflect the person's own biology.

3

Study the variant's effects

Scientists analyze how the NEXMIF gene and its protein behave in these cells, pinpointing how the variant disrupts normal function.

4

Engineer a precision treatment

Using these insights, researchers engineer a treatment designed to correct or compensate for the specific genetic change.

5

Preclinical testing

Candidate treatments undergo rigorous testing in cells and animal models to evaluate effectiveness and safety before any clinical use in patients.

Similar precision-medicine approaches are already in preliminary clinical testing, and in some cases early clinical use, for related rare neurogenetic conditions such as Rett syndrome and spinal muscular atrophy, demonstrating that frameworks like this one can transition from theory to therapy. The NEXMIF Foundation supports the kind of precision-medicine research that may one day translate into therapies for affected individuals. Every donation accelerates the underlying science required to make pipelines like this one a clinical reality.

Our priority program

Building the infrastructure for n-of-1 trials in NEXMIF

For ultra-rare conditions like NEXMIF, traditional trial designs are infeasible. The NEXMIF Foundation is funding the variant-specific preclinical work, registry depth, regulatory groundwork, and clinical partnerships needed to make individualized therapies, including ASOs and gene-based approaches, possible for our community.

Support this program →
§ 08 / Stay Connected

Join our journey

Sign up to receive periodic updates from the NEXMIF Foundation. We'll share research milestones, family stories, upcoming events, and ways to support the work, without flooding your inbox.

  • Research progress and major scientific publications, distilled into plain language
  • News about therapeutic developments, including X-reactivation and n-of-1 trial work
  • Invitations to family conferences, webinars, and community events
  • Stories from NEXMIF families around the world
  • Opportunities to participate in research and amplify the foundation's mission

Sign up for updates

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International groups worth connecting with

Rare disease progress is community work. These are the patient organizations, family groups, and registries that have built the NEXMIF community to where it is today. We are proud to collaborate with all of them.

🇺🇸

Simons Searchlight

International · Online

The premier international registry and natural history study for NEXMIF and 175+ other rare genetic neurodevelopmental conditions. Free, remote participation for families anywhere.

simonssearchlight.org
🌐

XLID98 / NEXMIF Facebook Group

International · led by Kristi Bakker

A private, family-led Facebook community of more than 1,700 members worldwide, founded and administered by Kristi Bakker. Approximately 350 patients have been identified through this community to date, nearly double the number known to peer-reviewed clinical literature, making it the most comprehensive informal census of the NEXMIF population in existence.

Join the group →
§ 10 / Contact

Get in touch

We welcome inquiries from families, clinicians, researchers, journalists, donors, and anyone interested in supporting the NEXMIF community. We do our best to respond to every message within two business days.

For urgent medical questions, please consult your healthcare provider directly, the NEXMIF Foundation provides community and research support, not medical advice.

Primary contact
mavaraagrawal@gmail.com
EIN 39-4335407
Tax status 501(c)(3) non-profit organization
Established 2025
General inquiries
mavaraagrawal@gmail.com

Questions about the foundation, partnerships, media, and general information.
Research & science
mavaraagrawal@gmail.com

For researchers, clinicians, and questions about our scientific program, grants, or collaborations.
Donations & giving
akhil@literacapital.com

Major gifts, recurring donations, matching gifts, planned giving, and tax-receipt questions.
§ 11 / References

The science we stand on

The information presented on this site is drawn from peer-reviewed literature, curated genetic databases, and authoritative patient organizations. All references are listed below with direct links to the source. We update this list as the field advances; corrections are welcomed at mavaraagrawal@gmail.com.

Key Clinical & Cohort Studies

  1. Stamberger H, Hammer TB, Gardella E, Vlaskamp DRM, ... Møller RS, Scheffer IE. NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns. Genetics in Medicine. 2021;23(2):363,373. doi.org/10.1038/s41436-020-00988-9
  2. Cantagrel V, Lossi AM, Boulanger S, Depetris D, Mattei MG, Gecz J, et al. Disruption of a new X linked gene highly expressed in brain in a family with two mentally retarded males. Journal of Medical Genetics. 2004;41(10):736,742. doi.org/10.1136/jmg.2004.021626
  3. de Lange IM, Helbig KL, Weckhuysen S, Møller RS, Velinov M, Dolzhanskaya N, et al. De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy. Journal of Medical Genetics. 2016;53(12):850,858. pmc.ncbi.nlm.nih.gov/articles/PMC5264224
  4. Van Maldergem L, Hou Q, Kalscheuer VM, Rio M, Doco-Fenzy M, Medeira A, et al. Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth. Human Molecular Genetics. 2013;22(16):3306,3314. pmc.ncbi.nlm.nih.gov/articles/PMC3723314
  5. Kuroda Y, Ohashi I, Naruto T, Ida K, Enomoto Y, Saito T, et al. Delineation of the KIAA2022 mutation phenotype: two patients with X-linked intellectual disability and distinctive features. American Journal of Medical Genetics Part A. 2015;167A(6):1349,1353. doi.org/10.1002/ajmg.a.36992
  6. Charzewska A, Rzońca S, Janeczko M, Nawara M, Smyk M, Bal J, et al. A duplication of the whole KIAA2022 gene validates the gene role in the pathogenesis of intellectual disability and autism. Clinical Genetics. 2015;88(3):297,299. doi.org/10.1111/cge.12528
  7. Anastasescu CM, Gheorman V, Godeanu SV, Cojocaru A, Iliuta FP, Stepan MD, Gheorman V. KIAA2022/NEXMIF c.1882C>T (p.Arg628*) Variant in a Romanian Patient with Neurodevelopmental Disorders and Epilepsy: A Case Report and Systematic Review. Life. 2025;15(3):497. doi.org/10.3390/life15030497
  8. Zhu Y, Cui F, Ouyang X, Guo J, Liu Y, Li N, Yang Q, Li Y, Liu L. Intellectual disorder type 98 caused by a novel NEXMIF variant: a case report and literature review. Frontiers in Medicine. 2026;13:1757682. doi.org/10.3389/fmed.2026.1757682
  9. Wang L, Huang Y, Liu X. NEXMIF pathogenic variant in a female child with epilepsy and multiple organ failure: a case report. Translational Pediatrics. 2023;12(6):1278,1287. doi.org/10.21037/tp-22-435

Mechanism & Basic Science

  1. Gilbert J, O'Connor M, Templet S, Moghaddam M, Di Via Ioschpe A, Sinclair A, Zhu LQ, Xu W, Man HY. NEXMIF/KIDLIA Knock-out Mouse Demonstrates Autism-Like Behaviors, Memory Deficits, and Impairments in Synapse Formation and Function. Journal of Neuroscience. 2020;40(1):237,254. doi.org/10.1523/JNEUROSCI.0222-19.2019
  2. Gilbert J, Man HY. The X-Linked Autism Protein KIAA2022/KIDLIA Regulates Neurite Outgrowth via N-Cadherin and δ-Catenin Signaling. eNeuro. 2016;3(5):ENEURO.0238-16.2016. doi.org/10.1523/ENEURO.0238-16.2016
  3. Mount RA, Athif M, O'Connor M, Saligrama A, Tseng HA, Sridhar S, Zhou C, Bortz E, San Antonio E, Kramer MA, Man HY, Han X. The autism spectrum disorder risk gene NEXMIF over-synchronizes hippocampal CA1 network and alters neuronal coding. Frontiers in Neuroscience. 2023;17:1277501. doi.org/10.3389/fnins.2023.1277501
  4. Stekelenburg C, Blouin JL, Santoni F, Zaghloul N, O'Hare EA, Dusaulcy R, et al. Loss of Nexmif results in the expression of phenotypic variability and loss of genomic integrity. Scientific Reports. 2022;12:13815. doi.org/10.1038/s41598-022-17845-1
  5. Merth K, Man HY. Reactivation of the X-linked Nexmif Gene Corrects Mosaic NEXMIF Deficiency in Heterozygous Female Mice. bioRxiv preprint. 2025. Man Laboratory, Boston University. doi.org/10.1101/2025.11.29.691251

Gene & Variant Databases

  1. HUGO Gene Nomenclature Committee (HGNC). Gene Symbol Report: NEXMIF (HGNC:29433). European Bioinformatics Institute. genenames.org · HGNC:29433
  2. SFARI Gene. Human Gene Module: NEXMIF. Simons Foundation Autism Research Initiative. gene.sfari.org/database/human-gene/NEXMIF
  3. Online Mendelian Inheritance in Man (OMIM). Intellectual Developmental Disorder, X-linked, Syndromic 98; MRXS98. Johns Hopkins University. omim.org/entry/300912 · gene entry 300524
  4. UniProt Consortium. NEXMIF · Neurite Extension and Migration Factor · Q5QGS0. European Bioinformatics Institute. uniprot.org/uniprotkb/Q5QGS0
  5. Human Protein Atlas. NEXMIF (KIAA2022, KIDLIA, MRX98, XPN) protein expression summary. proteinatlas.org/ENSG00000050030-NEXMIF
  6. ClinGen. NEXMIF (HGNC:29433) gene-disease validity, dosage sensitivity, and genomic structure. Cytoband: Xq13.3; MANE Select transcript NM_001008537.3 (ENST00000055682.12); 4 coding exons spanning approximately 192 kb; pLI = 1, LOEUF = 0.2 (strong constraint against loss-of-function). search.clinicalgenome.org · HGNC:29433
  7. Ensembl Genome Browser. NEXMIF (ENSG00000050030), gene summary. Genomic coordinates: X:74,732,856,74,925,472 (GRCh38), confirming gene span across the Xq13.2,q13.3 boundary. ensembl.org · ENSG00000050030

Patient Registries & Family Organizations

  1. Kalra A, Bijarnia-Mahay S, Rai A, Verma I, Saviour P, Verma J. Clinical spectrum of KIAA2022/NEXMIF pathogenic variants in males and females: Report of three patients from Indian kindred with a review of published patients. Journal of the Neurological Sciences. 2020;416:117025. doi.org/10.1016/j.jns.2020.117025
  2. XLID98 Foundation. Family-led foundation supporting individuals affected by XLID98 (KIAA2022/NEXMIF/MRX98) worldwide. Registered charity in Canada. xlid98.org
  3. Online Mendelian Inheritance in Man (OMIM). Entry #300912: Intellectual Developmental Disorder, X-linked 98 (XLID98), the canonical disease entry, sometimes called “X-linked intellectual disability, Cantagrel type.” Johns Hopkins University. omim.org/entry/300912
  4. EpiCARE. European Reference Network on rare and complex epilepsies. epi-care.eu

Additional Selected Clinical Reports

  1. Lambert N, Dauve C, Ranza E, Makrythanasis P, Santoni F, Sloan-Béna F, et al. Novel NEXMIF pathogenic variant in a boy with severe autistic features, intellectual disability, and epilepsy, and his mildly affected mother. Journal of Human Genetics. 2018;63(8):847,850. doi.org/10.1038/s10038-018-0459-2
  2. Farach LS, Northrup H. KIAA2022 nonsense mutation in a symptomatic female. American Journal of Medical Genetics Part A. 2016;170(3):703,706. doi.org/10.1002/ajmg.a.37479
  3. Lorenzo M, Stolte-Dijkstra I, van Rheenen P, Smith RG, Scheers T, Walia JS. Clinical spectrum of KIAA2022 pathogenic variants in males: Case report of two boys with KIAA2022 pathogenic variants and review of the literature. American Journal of Medical Genetics Part A. 2018;176(6):1455,1462. doi.org/10.1002/ajmg.a.38667
  4. Moyses-Oliveira M, Guilherme RS, Meloni VA, Di Battista A, de Mello CB, Bragagnolo S, et al. X-linked intellectual disability related genes disrupted by balanced X-autosome translocations. American Journal of Medical Genetics Part B. 2015;168(8):669,677. doi.org/10.1002/ajmg.b.32355
  5. Alarcon-Martinez T, Khan A, Myers KA. Torpedo Maculopathy Associated with NEXMIF Mutation. Molecular Syndromology. 2019;10(4):229,233. doi.org/10.1159/000498835
  6. Athanasakis E, Licastro D, Faletra F, Fabretto A, Dipresa S, Vozzi D, et al. Next generation sequencing in nonsyndromic intellectual disability: from a negative molecular karyotype to a possible causative mutation detection. American Journal of Medical Genetics Part A. 2014;164A(1):170,176. doi.org/10.1002/ajmg.a.36274
  7. Webster R, Cho MT, Retterer K, Millan F, Nowak C, Douglas J, et al. De novo loss of function mutations in KIAA2022 are associated with epilepsy and neurodevelopmental delay in females. Clinical Genetics. 2017;91(5):756,763. doi.org/10.1111/cge.12854
  8. Chen S, Deng X, Xiong J, Chen B, He F, Yang L, et al. NEXMIF mutations in intellectual disability and epilepsy: A report of 2 cases and literature review. Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2022;47(3):265,270. pubmed.ncbi.nlm.nih.gov/35545418
  9. Qi H, Pan D, Zhang Y, Zhu Y, Zhang X, Fu T. NEXMIF Combined with KIDINS220 Gene Mutation Caused Neurodevelopmental Disorder and Epilepsy: One Case Report. Actas Españolas de Psiquiatría. 2024;52(4):588,594. pmc.ncbi.nlm.nih.gov/articles/PMC11319755
Disclaimer

Content on this site is for informational and educational purposes only and is not a substitute for medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider for questions about a medical condition. The NEXMIF Foundation makes every reasonable effort to ensure references are current and accurately cited; please notify us of any errors at mavaraagrawal@gmail.com.